RS6030 F5

Health Risk Chr 1:169529736 snv missense variant

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What This Variant Does

"[GWAS:Uric acid levels]

Associated Conditions

Thrombophilia due to activated protein C resistance

Congenital factor V deficiency

Thrombophilia due to activated protein C resistance

Congenital factor V deficiency

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Optic disc size	T	β: 0.01	2E-10	PubMed
Uric acid levels	—	—	3E-6	PubMed

Population Frequencies

gnomAD ALL

66.8%

1kG AFR

82.7%

1kG ALL

69.1%

1kG AMR

48.8%

1kG EAS

28.4%

1kG EUR

68.9%

1kG SAS

38.8%

Other Variants in F5