Tag

PCOS

28 genetic variants with this tag.

RSID	Gene	Description	Category
rs10739076	PLGRKT PLGRKT Plasminogen Receptor/Fibrinolysis	Intergenic PCOS susceptibility locus downstream of PLGRKT (plasminogen recept...	Fertility & Ovarian Function	PCOS	Moderate
rs11031006	FSHB	Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d...	Fertility & Ovarian Function	PCOS	Strong
rs12478601	THADA THADA PCOS/Insulin Resistance	Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th...	Fertility & Ovarian Function	PCOS	Strong
rs13405728	LHCGR	Intronic variant in the LH/choriogonadotropin receptor gene associated with P...	Fertility & Ovarian Function	PCOS	Strong
rs1151996	PPARG PPARG rs1151996	Intronic PPARG variant significantly associated with circulating vitamin D le...	Fat Storage & Energy	PCOS	Moderate
rs13164856	IRF1	PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele...	Endometriosis & Uterine Health	PCOS	Strong
rs1784692	ZBTB16 ZBTB16/PLZF Ovarian Volume	An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a...	Fertility & Ovarian Function	PCOS	Moderate
rs2178575	ERBB4 ERBB4/HER4 PCOS Folliculogenesis	An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ER...	Fertility & Ovarian Function	PCOS	Strong
rs2268361	FSHR FSHR Intronic Variant (c.669-5590)	Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH...	Fertility & Ovarian Function	PCOS	Moderate
rs2414096	CYP19A1 CYP19A1 intron 4 polymorphism	Intronic CYP19A1 polymorphism associated with variation in aromatase expressi...	Reproductive Hormones	PCOS	Moderate
rs2271194	ERBB3 ERBB3/RAB5B PCOS Metabolic	A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep...	Fertility & Ovarian Function	PCOS	Strong
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Ovarian Function	PCOS	Strong
rs2479106	DENND1A	Intronic variant in the androgen-regulating DENND1A gene associated with poly...	Fertility & Ovarian Function	PCOS	Strong
rs853854	MAPRE1 MAPRE1/EB1 Spindle Stability	An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident...	Gamete Quality & DNA Repair	PCOS	Moderate
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	PCOS	Strong
rs4784165	TOX3 TOX3 rs4784165	Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi...	Fertility & Ovarian Function	PCOS	Moderate
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	PCOS	Moderate
rs4944653	PRSS23 PRSS23 Ovarian Serine Protease	An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr...	Fertility & Ovarian Function	PCOS	Moderate
rs6259	SHBG Asp356Asn	Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur...	Reproductive Hormones	PCOS	Moderate
rs700519	CYP19A1 Arg264Cys	Coding variant in aromatase that substitutes cysteine for arginine at positio...	Reproductive Hormones	PCOS	Moderate
rs7852296	DENND1A DENND1A PCOS Susceptibility Variant	An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly rep...	Fertility & Ovarian Function	PCOS	Moderate
rs727428	SHBG SHBG +1091 C>T	Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-...	Reproductive Hormones	PCOS	Strong
rs804279	GATA4 GATA4/NEIL2 PCOS Susceptibility	Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w...	Fertility & Ovarian Function	PCOS	Moderate
rs1799817	INSR His1085His	Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...	Blood Sugar & Diabetes	PCOS	Moderate
rs858518	SHBG SHBG intronic regulatory variant	Intronic variant within the SHBG gene that participates in a haplotype (with ...	Reproductive Hormones	PCOS	Moderate
rs2059807	INSR INSR intronic variant	Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...	Blood Sugar & Diabetes	PCOS	Moderate
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	PCOS	Strong
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	PCOS	Strong