{{Rsnum
|rsid=12994401
|Chromosome=2
|position=51845108
|Orientation=plus
|GMAF=0.2057
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=AC007682.1
|Gene_s=AC007682.1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 67.3 | 28.3 | 4.4
| HCB | 44.5 | 36.5 | 19.0
| JPT | 42.0 | 44.6 | 13.4
| YRI | 94.6 | 5.4 | 0.0
| ASW | 89.5 | 7.0 | 3.5
| CHB | 44.5 | 36.5 | 19.0
| CHD | 40.7 | 47.2 | 12.0
| GIH | 63.4 | 31.7 | 5.0
| LWK | 93.6 | 5.5 | 0.9
| MEX | 62.1 | 25.9 | 12.1
| MKK | 69.2 | 27.6 | 3.2
| TSI | 73.5 | 24.5 | 2.0
| HapMapRevision=28
}}[http://blog.23andme.com/2009/09/24/snpwatch-common-variants-may-influence-glaucoma-risk-in-individuals-of-african-descent/ 23andMe blog] citing {{PMID|19805132|OA=1
}} 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|OA=1
}}, Korean {{PMID|21552472|OA=1
}}, Chinese {{PMID|22773901|OA=1
}},  [http://www.pnas.org/content/107/15/E61 African] or Central European {{PMID|23136999}} populations. In [http://www.pnas.org/content/107/15/E61 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|OA=1
}}. South-Indian cohort evaluation {{PMID|22410552}} suggests [[rs10202118]] as one contributor, while Chinese study {{PMID|22773901|OA=1
}} suggests [[rs1533428]] contribution. However, an analysis of extended chromosome locus 2p14-21 {{PMID|21552472|OA=1
}} did not find such association, and meta-analysis by the Chinese study {{PMID|22773901|OA=1
}} showed insignificant association to [[rs12994401]] overall.

{{PMID Auto
|PMID=19805132
|Title=Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados
|OA=1
}}

{{PMID Auto
|PMID=21150032
|Title=Complex genetic mechanisms in glaucoma: an overview.
|OA=1
}}

{{PMID Auto
|PMID=22410552
|Title=Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort
}}

{{PMID Auto
|PMID=23136999
|Title=Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}