Tag

Steroid Hormones

25 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 Hormones	Established
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Steroid Hormones	Established
rs1062033	CYP19A1	Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 tran...	Hormones & Sleep	Steroid Hormones	Moderate
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Steroid Hormones	Established
rs104894137	CYP17A1 Pro342Thr	Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act...	Reproductive Hormones	Steroid Hormones	Strong
rs104894138	CYP17A1 Arg96Trp (R96W)	Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ...	Reproductive Hormones	Steroid Hormones	Established
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Steroid Hormones	Established
rs104894142	CYP17A1 R362C (Arg362Cys)	Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly...	Reproductive Hormones	Steroid Hormones	Established
rs104894143	CYP17A1 W406R (Trp406Arg)	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Steroid Hormones	Established
rs137852689	STAR R217T (Arg217Thr)	Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein...	Reproductive Hormones	Steroid Hormones	Established
rs1784692	ZBTB16 ZBTB16/PLZF Ovarian Volume	An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a...	Fertility & Ovarian Function	Steroid Hormones	Moderate
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Steroid Hormones	Established
rs2414095	CYP19A1	Intronic variant in the aromatase gene associated with lower circulating estr...	Reproductive Hormones	Steroid Hormones	Strong
rs2414096	CYP19A1 CYP19A1 intron 4 polymorphism	Intronic CYP19A1 polymorphism associated with variation in aromatase expressi...	Reproductive Hormones	Steroid Hormones	Moderate
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Steroid Hormones	Strong
rs5934505	FAM9B	Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA...	Reproductive Hormones	Steroid Hormones	Strong
rs6162	CYP17A1 His46=	Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ...	Reproductive Hormones	Steroid Hormones	Moderate
rs6259	SHBG Asp356Asn	Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur...	Reproductive Hormones	Steroid Hormones	Moderate
rs7852296	DENND1A DENND1A PCOS Susceptibility Variant	An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly rep...	Fertility & Ovarian Function	Steroid Hormones	Moderate
rs727428	SHBG SHBG +1091 C>T	Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-...	Reproductive Hormones	Steroid Hormones	Strong
rs804279	GATA4 GATA4/NEIL2 PCOS Susceptibility	Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w...	Fertility & Ovarian Function	Steroid Hormones	Moderate
rs4395923	CYP7B1 CYP7B1 Neurosteroid Hydroxylase	Intronic variant in the brain neurosteroid hydroxylase gene affecting DHEA an...	Mood & Behavior	Steroid Hormones	Emerging
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Steroid Hormones	Established
rs80358216	HSD3B2 Trp171X	Pathogenic nonsense variant introducing a premature stop codon at position 17...	Reproductive Hormones	Steroid Hormones	Established
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	Steroid Hormones	Strong