rs12994401
| Orientation | plus |
| Stabilized | plus |
| Make rs12994401(C;C) |
| Make rs12994401(C;T) |
| Make rs12994401(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 51845108 |
| Gene | LOC730100 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12994401 |
| dbSNP (classic) | rs12994401 |
| ClinGen | rs12994401 |
| ebi | rs12994401 |
| HLI | rs12994401 |
| Exac | rs12994401 |
| Gnomad | rs12994401 |
| Varsome | rs12994401 |
| LitVar | rs12994401 |
| Map | rs12994401 |
| PheGenI | rs12994401 |
| Biobank | rs12994401 |
| 1000 genomes | rs12994401 |
| hgdp | rs12994401 |
| ensembl | rs12994401 |
| geneview | rs12994401 |
| scholar | rs12994401 |
| rs12994401 | |
| pharmgkb | rs12994401 |
| gwascentral | rs12994401 |
| openSNP | rs12994401 |
| 23andMe | rs12994401 |
| SNPshot | rs12994401 |
| SNPdbe | rs12994401 |
| MSV3d | rs12994401 |
| GWAS Ctlg | rs12994401 |
| GMAF | 0.2057 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
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23andMe blog citing [PMID 19805132
] in an Afro-Caribbean population rs12994401(T;T) had almost 35 times higher odds of primary open-angle glaucoma. This correlation was not found in Japanese [PMID 20424111], Korean [PMID 21552472], Chinese [PMID 22773901], African or Central European [PMID 23136999] populations. In African-American population correlation was for the reverse allele C. This suggest as yet unidentified causal variant with population dependent linkage to rs12994401 is responsible [PMID 17273975]. South-Indian cohort evaluation [PMID 22410552] suggests rs10202118 as one contributor, while Chinese study [PMID 22773901] suggests rs1533428 contribution. However, an analysis of extended chromosome locus 2p14-21 [PMID 21552472] did not find such association, and meta-analysis by the Chinese study [PMID 22773901] showed insignificant association to rs12994401 overall.
[PMID 19805132] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados
[PMID 21150032] Complex genetic mechanisms in glaucoma: an overview.
[PMID 22410552] Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort
[PMID 23136999] Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population
