RS137886124 SAG

Health Risk Chr 2:233320821 snv missense variant

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Associated Conditions

Retinitis pigmentosa

Retinitis pigmentosa 96

Oguchi disease-1

Retinitis pigmentosa 47

Retinitis pigmentosa

Retinitis pigmentosa 96

Oguchi disease-1

Retinitis pigmentosa 47

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Total bilirubin levels	T	OR: 0.17	3E-16	PubMed
Direct bilirubin levels	T	OR: 0.15	7E-12	PubMed

Population Frequencies

gnomAD ALL

0.3%

1kG AFR

99.8%

1kG ALL

0.2%

1kG AMR

0.4%

1kG EAS

100%

1kG EUR

99.6%

1kG SAS

99.9%

Other Variants in SAG