Tag

Steroid Metabolism

15 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
rs1052373	MYBPC3	Cardiac myosin-binding protein variant strongly associated with endurance ath...	Fitness & Body	Steroid Metabolism	Strong
rs104894137	CYP17A1 Pro342Thr	Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act...	Reproductive Hormones	Steroid Metabolism	Strong
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
rs2268797	SRD5A2 SRD5A2 intronic variant	Intronic variant in SRD5A2 tagging haplotype backgrounds that differ in 5-alp...	Reproductive Hormones	Steroid Metabolism	Emerging
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Steroid Metabolism	Strong
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
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Steroid Metabolism	Established
rs28936701	CYP1B1 R469W	Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a...	Vascular Inflammation & Remodeling	Steroid Metabolism	Established
rs80358216	HSD3B2 Trp171X	Pathogenic nonsense variant introducing a premature stop codon at position 17...	Reproductive Hormones	Steroid Metabolism	Established