RS25640 HSD17B4

Health Risk Chr 5:119475837 snv missense variant

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What This Variant Does

"aka c.317G&gt

Associated Conditions

Bifunctional peroxisomal enzyme deficiency

GWAS Studies (1)

Trait	Risk Allele	OR / Beta	P-value	Study
BRDT protein levels	A	OR: 0.15	2E-135	PubMed

Population Frequencies

gnomAD ALL

44.7%

1kG AFR

11%

1kG ALL

36.3%

1kG AMR

49.1%

1kG EAS

50.7%

1kG EUR

55.1%

1kG SAS

36.3%

Other Variants in HSD17B4