Tag

Steroid Metabolism

10 genetic variants with this tag.

RSID	Gene	Description	Category
rs104894085	STAR Q258X (c.772C>T)	Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote...	Reproductive Hormones	Steroid Metabolism	Established
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Steroid Metabolism	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Steroid Metabolism	Established
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Steroid Metabolism	Established
rs1799998	CYP11B2 -344C>T	Promoter variant in aldosterone synthase increasing CYP11B2 transcription, as...	Blood Pressure & Hypertension	Steroid Metabolism	Moderate
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Steroid Metabolism	Established
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Steroid Metabolism	Strong
rs28936701	CYP1B1 R469W	Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a...	Vascular Inflammation & Remodeling	Steroid Metabolism	Established
rs6162	CYP17A1 His46=	Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ...	Reproductive Hormones	Steroid Metabolism	Moderate
rs7594951	SRD5A2 SRD5A2 intron 4 regulatory variant	Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor...	Reproductive Hormones	Steroid Metabolism	Emerging