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