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SNP Detail For rs1470579
1.Mapping Information
| Human SNP ID | rs1470579 |
|---|---|
| Human chromosome | chr3 |
| Human SNP position | 185811292 |
| Pig chromosome | chr13 |
| Pig SNP position | 133145188 |
2.Annotation Information
| PubMed ID | 20581827 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20581827 |
| Study | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 8,130 European ancestry cases, 38,987 European ancestry controls |
| Replication sample | Up to 34,412 European ancestry cases, 59,925 European ancestry controls |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.000000002 |
| Pvalue mlog | 8.69897000433601 |
| P value text | |
| Or beta | 1.14 |
| %95 Ci | [1.09-1.19] |
| Platform | Affymetrix, Illumina [2426886] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST000712 |
| PubMed ID | 22233651 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/22233651 |
| Study | A genome-wide association study of gestational diabetes mellitus in Korean women. |
| Disease/Trait | Diabetes (gestational) |
| Initial sample | 468 Korean ancestry cases, 1,242 Korean ancestry controls |
| Replication sample | 931 Korean ancestry cases, 783 Korean ancestry controls |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.293 |
| P value | 0.0000002 |
| Pvalue mlog | 6.69897000433601 |
| P value text | |
| Or beta | 1.332 |
| %95 Ci | [1.197-1.484] |
| Platform | Affymetrix [2188613] (imputed) |
| CNV | N |
| Mapped trait | gestational diabetes |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004593 |
| Study accession | GCST001375 |
| PubMed ID | 22581228 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22581228 |
| Study | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. |
| Disease/Trait | Fasting glucose-related traits (interaction with BMI) |
| Initial sample | Up to 58,074 European ancestry individuals |
| Replication sample | Up tp 38,422 European ancestry individuals |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-? |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.0000006 |
| Pvalue mlog | 6.22184874961635 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2400000] (imputed) |
| CNV | N |
| Mapped trait | body mass index, fasting blood glucose measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0004465 |
| Study accession | GCST001527 |
| PubMed ID | 23945395 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/23945395 |
| Study | Genome-wide association study identifies three novel loci for type 2 diabetes. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 5,976 Japanese ancestry cases, 20,829 Japanese ancestry controls |
| Replication sample | 24,416 East Asian ancestry cases, 13,985 East Asian ancestry controls |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.34 |
| P value | 0.00000000000005 |
| Pvalue mlog | 13.3010299956639 |
| P value text | |
| Or beta | 1.19 |
| %95 Ci | [1.14-1.24] |
| Platform | Illumina [6209637] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST002128 |
| PubMed ID | 23300278 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23300278 |
| Study | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls |
| Replication sample | up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.000005 |
| Pvalue mlog | 5.30102999566398 |
| P value text | (Punjabi Sikhs) |
| Or beta | 1.19 |
| %95 Ci | [1.11-1.28] |
| Platform | Illumina [1232008] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001809 |
| PubMed ID | 23300278 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23300278 |
| Study | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls |
| Replication sample | up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.41 |
| P value | 0.0000004 |
| Pvalue mlog | 6.39794000867203 |
| P value text | (All Punjabi) |
| Or beta | 0.88 |
| %95 Ci | [0.83 - 0.92] |
| Platform | Illumina [1232008] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001809 |
| PubMed ID | 23300278 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23300278 |
| Study | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls |
| Replication sample | up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.45 |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | (South Asians) |
| Or beta | 1.06 |
| %95 Ci | [1.04-1.09] |
| Platform | Illumina [1232008] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001809 |
| PubMed ID | 23300278 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23300278 |
| Study | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls |
| Replication sample | up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.45 |
| P value | 0.0000000000002 |
| Pvalue mlog | 12.698970004336 |
| P value text | (South Asians, East Asians) |
| Or beta | 1.06 |
| %95 Ci | [1.04-1.08] |
| Platform | Illumina [1232008] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001809 |
| PubMed ID | 23300278 |
| Journal | Diabetes |
| Link | www.ncbi.nlm.nih.gov/pubmed/23300278 |
| Study | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. |
| Disease/Trait | Type 2 diabetes |
| Initial sample | 842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls |
| Replication sample | up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 |
| Region | 3q27.2 |
| Chromosome id | chr3 |
| Chromosome position | 185811292 |
| Reported gene | IGF2BP2 |
| Mapped gene | IGF2BP2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10644 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1470579-C |
| SNPs | rs1470579 |
| Merged | 0 |
| SNP id current | 1470579 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 2E-19 |
| Pvalue mlog | 18.698970004336 |
| P value text | (South Asian, East Asian, Europeans) |
| Or beta | 1.08 |
| %95 Ci | [1.05-1.09] |
| Platform | Illumina [1232008] (imputed) |
| CNV | N |
| Mapped trait | type II diabetes mellitus |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001360 |
| Study accession | GCST001809 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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