RS11200638 HTRA1

Health Risk Chr 10:122461027 snv non coding transcript exon variant

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What This Variant Does

"rs11200638, a SNP in the HTRA1 promoter, is associated with a 10 fold increased risk of wet age rela...

Associated Conditions

Age related macular degeneration 7

GWAS Studies (4)

Trait	Risk Allele	OR / Beta	P-value	Study
Neovascular age-related macular degeneration	A	OR: 2.12	5E-17	PubMed
Reticular pseudodrusen in age-related macular degeneration	A	OR: 0.25	4E-15	PubMed
Age-related macular degeneration	—	OR: 1.24	1E-12	PubMed
Age-related macular degeneration (wet)	A	OR: 1.6	8E-12	PubMed

ClinVar Assertions (1)

NC_000010.11:g.122461028G>A

· 1 submitter

Population Frequencies

1kG AFR

25.7%

1kG ALL

29%

1kG AMR

75.1%

1kG EAS

41.1%

1kG EUR

80.6%

1kG SAS

66.5%

Other Variants in HTRA1