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SNP Detail For rs2186369
1.Mapping Information
| Human SNP ID | rs2186369 |
|---|---|
| Human chromosome | chr22 |
| Human SNP position | 23828809 |
| Pig chromosome | chr14 |
| Pig SNP position | 53321427 |
2.Annotation Information
| PubMed ID | 23382691 |
|---|---|
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 1,848 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-T |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.81823 |
| P value | 0.0000002 |
| Pvalue mlog | 6.69897000433601 |
| P value text | (IgG1G1N) |
| Or beta | 0.0667 |
| %95 Ci | [0.042-0.092] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001849 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189377544642857 |
| P value | 0.0000000009 |
| Pvalue mlog | 9.04575749056067 |
| P value text | (IGP10) |
| Or beta | 0.2557 |
| %95 Ci | [0.17-0.34] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.00000003 |
| Pvalue mlog | 7.52287874528033 |
| P value text | (IGP14) |
| Or beta | 0.2294 |
| %95 Ci | [0.15-0.31] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189518247657296 |
| P value | 0.0000000001 |
| Pvalue mlog | 10 |
| P value text | (IGP39) |
| Or beta | 0.267 |
| %95 Ci | [0.19-0.35] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.0000000001 |
| Pvalue mlog | 10 |
| P value text | (IGP40) |
| Or beta | 0.2653 |
| %95 Ci | [0.18-0.35] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.000004 |
| Pvalue mlog | 5.39794000867203 |
| P value text | (IGP45) |
| Or beta | 0.1924 |
| %95 Ci | [0.11-0.27] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189660889532294 |
| P value | 0.0000000000000007 |
| Pvalue mlog | 15.1549019599857 |
| P value text | (IGP49) |
| Or beta | 0.3363 |
| %95 Ci | [0.25-0.42] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189640669950739 |
| P value | 0.0000000005 |
| Pvalue mlog | 9.30102999566398 |
| P value text | (IGP50) |
| Or beta | 0.2588 |
| %95 Ci | [0.18-0.34] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.0000002 |
| Pvalue mlog | 6.69897000433601 |
| P value text | (IGP54) |
| Or beta | 0.2177 |
| %95 Ci | [0.14-0.3] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189579642030276 |
| P value | 0.000000000001 |
| Pvalue mlog | 12 |
| P value text | (IGP62) |
| Or beta | 0.2948 |
| %95 Ci | [0.21-0.38] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189663332739421 |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | (IGP63) |
| Or beta | 0.2445 |
| %95 Ci | [0.16-0.33] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.00000000000002 |
| Pvalue mlog | 13.698970004336 |
| P value text | (IGP64) |
| Or beta | 0.3184 |
| %95 Ci | [0.24-0.4] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | NR |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.00000000000000009 |
| Pvalue mlog | 16.0457574905606 |
| P value text | (IGP66) |
| Or beta | 0.3473 |
| %95 Ci | [0.27-0.43] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.000000000001 |
| Pvalue mlog | 12 |
| P value text | (IGP67) |
| Or beta | 0.2938 |
| %95 Ci | [0.21-0.38] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189580990204809 |
| P value | 0.000000000000008 |
| Pvalue mlog | 14.096910013008 |
| P value text | (IGP68) |
| Or beta | 0.324 |
| %95 Ci | [0.24-0.41] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189823636647347 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (IGP69) |
| Or beta | 0.2336 |
| %95 Ci | [0.15-0.32] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.0000000000000001 |
| Pvalue mlog | 16 |
| P value text | (IGP70) |
| Or beta | 0.3451 |
| %95 Ci | [0.26-0.43] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.00000000000000009 |
| Pvalue mlog | 16.0457574905606 |
| P value text | (IGP71) |
| Or beta | 0.347 |
| %95 Ci | [0.27-0.43] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189358691006233 |
| P value | 0.00000000000000009 |
| Pvalue mlog | 16.0457574905606 |
| P value text | (IGP72) |
| Or beta | 0.3471 |
| %95 Ci | [0.27-0.43] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.190211496872207 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (IGP74) |
| Or beta | 0.2357 |
| %95 Ci | [0.15-0.32] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189826451627285 |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | (IGP75) |
| Or beta | 0.2454 |
| %95 Ci | [0.16-0.33] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189496820649755 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (IGP76) |
| Or beta | 0.2333 |
| %95 Ci | [0.15-0.31] unit increase |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
| PubMed ID | 23382691 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23382691 |
| Study | Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. |
| Disease/Trait | IgG glycosylation |
| Initial sample | 2,247 European ancestry individuals |
| Replication sample | NA |
| Region | 22q11.23 |
| Chromosome id | chr22 |
| Chromosome position | 23828809 |
| Reported gene | SMARCB1, DERL3 |
| Mapped gene | SMARCB1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 6598 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2186369-G |
| SNPs | rs2186369 |
| Merged | 0 |
| SNP id current | 2186369 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.189660889532294 |
| P value | 0.0000000000003 |
| Pvalue mlog | 12.5228787452803 |
| P value text | (IGP9) |
| Or beta | 0.304 |
| %95 Ci | [0.22-0.39] unit decrease |
| Platform | Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | serum IgG glycosylation measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005193 |
| Study accession | GCST001848 |
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