Human SNP ID | rs592229 |
---|---|
Human chromosome | chr6 |
Human SNP position | 31962664 |
Pig chromosome | chr7 |
Pig SNP position | 27761367 |
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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31962664 |
Reported gene | NR |
Mapped gene | SKIV2L |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6499 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs592229-G |
SNPs | rs592229 |
Merged | 0 |
SNP id current | 592229 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.370283129554656 |
P value | 0.000009 |
Pvalue mlog | 5.04575749056067 |
P value text | (IGP2) |
Or beta | 0.1479 |
%95 Ci | [0.083-0.213] 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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31962664 |
Reported gene | NR |
Mapped gene | SKIV2L |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6499 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs592229-G |
SNPs | rs592229 |
Merged | 0 |
SNP id current | 592229 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.370399655280899 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | (IGP42) |
Or beta | 0.1536 |
%95 Ci | [0.088-0.219] 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 | 25281659 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25281659 |
Study | A novel common variant in DCST2 is associated with length in early life and height in adulthood. |
Disease/Trait | Infant length |
Initial sample | 28,238 European ancestry individuals |
Replication sample | NA |
Region | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31962664 |
Reported gene | HLA |
Mapped gene | SKIV2L |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6499 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs592229-G |
SNPs | rs592229 |
Merged | 0 |
SNP id current | 592229 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.43 |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | |
Or beta | 0.048 |
%95 Ci | [0.030-0.066] unit increase |
Platform | Affymetrix, Illumina [2193675] (imputed) |
CNV | N |
Mapped trait | infant body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006785 |
Study accession | GCST002646 |