Tag
Reproductive Health
81 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10093345 | EIF4EBP1 EIF4EBP1 rs10093345 | Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor ... | Endometriosis & Uterine Health | Moderate | |
| rs10183486 | TLK1 | Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr... | Gamete Quality & DNA Repair | Strong | |
| rs1046089 | PRRC2A Arg1740His | Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat... | Fertility & Ovarian Function | Strong | |
| rs104894085 | STAR Q258X (c.772C>T) | Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote... | Reproductive Hormones | Established | |
| rs10167914 | IL1A IL1A Endometriosis Susceptibility Variant | A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele ... | Endometriosis & Uterine Health | Strong | |
| rs104894135 | CYP17A1 Ser106Pro | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs10835638 | FSHB c.-211G>T | Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se... | Fertility & Ovarian Function | Strong | |
| rs118204017 | ACADVL | ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ... | Liver Fat | Strong | |
| rs104894136 | CYP17A1 Arg239* | Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ... | Reproductive Hormones | Established | |
| rs10859871 | VEZT | Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa... | Endometriosis & Uterine Health | Strong | |
| rs2032582 | ABCB1 G2677T/A (Ser893Ala/Thr) | Triallelic missense variant in the P-glycoprotein efflux pump that reduces th... | Gamete Quality & DNA Repair | Moderate | |
| rs104894138 | CYP17A1 Arg96Trp (R96W) | Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ... | Reproductive Hormones | Established | |
| rs11031006 | FSHB | Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d... | Fertility & Ovarian Function | Strong | |
| rs1137101 | LEPR Q223R (Gln223Arg) | Common leptin receptor variant in the leptin-binding domain affecting satiety... | Hormones & Sleep | Moderate | |
| rs11674184 | GREB1 GREB1 Estrogen-Responsive Endometriosis Variant | Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass... | Endometriosis & Uterine Health | Strong | |
| rs2277339 | PRIM1 PRIM1 Asp5Ala missense variant | Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ... | Gamete Quality & DNA Repair | Strong | |
| rs104894141 | CYP17A1 W17X | Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α... | Reproductive Hormones | Established | |
| rs12470652 | LHCGR Asn291Ser (N291S) | Missense variant in the LH/hCG receptor producing a gain-of-function increase... | Fertility & Ovarian Function | Moderate | |
| rs1250248 | FN1 | Intronic variant in the fibronectin 1 gene associated with increased suscepti... | Endometriosis & Uterine Health | Strong | |
| rs104894142 | CYP17A1 R362C (Arg362Cys) | Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly... | Reproductive Hormones | Established | |
| rs12478601 | THADA THADA PCOS/Insulin Resistance | Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th... | Fertility & Ovarian Function | Strong | |
| rs13154066 | NPR3 | Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ... | Endometriosis & Uterine Health | Strong | |
| rs1800386 | VWF Tyr1584Cys | Low-penetrance variant in von Willebrand factor that causes enhanced protein ... | Von Willebrand & Anticoagulant Proteins | Strong | |
| rs104894143 | CYP17A1 W406R (Trp406Arg) | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs104894396 | GJB2 W24X | Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea... | Neurology & Cognition | Established | |
| rs13164856 | IRF1 | PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele... | Endometriosis & Uterine Health | Strong | |
| rs13405728 | LHCGR | Intronic variant in the LH/choriogonadotropin receptor gene associated with P... | Fertility & Ovarian Function | Strong | |
| rs2305957 | HSPA4L | Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the... | Gamete Quality & DNA Repair | Moderate | |
| rs121908866 | TSHR W546X | Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH... | Reproductive Hormones | Strong | |
| rs13394619 | GREB1 | Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc... | Endometriosis & Uterine Health | Established | |
| rs16991615 | MCM8 E341K | Missense variant in the MCM8 DNA repair helicase associated with ovarian rese... | Fertility & Ovarian Function | Strong | |
| rs244715 | ZNF346 | Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP... | Gamete Quality & DNA Repair | Strong | |
| rs1238574 | SULT1E1 SULT1E1 intronic variant | Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter... | Reproductive Hormones | Emerging | |
| 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 | |
| rs137852690 | STAR A218V | STAR missense variant abolishing steroidogenic activity; homozygous carriers ... | Reproductive Hormones | Established | |
| rs2153157 | SYCP2L SYCP2L splice-efficiency variant | Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more... | Fertility & Ovarian Function | Strong | |
| rs137853096 | HSD17B4 Gly16Ser | Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting... | Metabolic Enzymes & Rare Disorders | Established | |
| rs1971256 | CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant | Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the C all... | Endometriosis & Uterine Health | Strong | |
| rs2178575 | ERBB4 ERBB4/HER4 PCOS Folliculogenesis | An intronic variant in ERBB4 on chromosome 2q34, increasing PCOS susceptibili... | Fertility & Ovarian Function | Strong | |
| rs2414095 | CYP19A1 | Intronic variant in the aromatase gene associated with lower circulating estr... | Reproductive Hormones | Strong | |
| rs2046210 | ESR1 ESR1 rs2046210 | Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;... | Endometriosis & Uterine Health | 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 | |
| rs2747648 | ESR1 ESR1 3′UTR miR-453 site | 3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity... | Reproductive Hormones | Moderate | |
| rs2206949 | ESR1 ESR1 Intronic Endometriosis Variant | Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde... | Endometriosis & Uterine Health | Moderate | |
| rs2268363 | FSHR FSHR ART Response Variant | Intronic variant in the FSH receptor gene; identified in a genome-wide associ... | Fertility & Ovarian Function | Emerging | |
| rs28934880 | HSD3B2 Ala10Glu | Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ... | Reproductive Hormones | Strong | |
| rs2293275 | LHCGR Asn312Ser (N312S) | Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov... | Fertility & Ovarian Function | Strong | |
| rs2856836 | IL1A | 3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su... | Endometriosis & Uterine Health | Moderate | |
| rs4704397 | PDE8B PDE8B TSH-associated variant | Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser... | Reproductive Hormones | Strong | |
| rs2303369 | FNDC4 | Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom... | Fertility & Ovarian Function | Strong | |
| rs3129878 | HLA-DRA HLA-DRA Variant | Intronic variant in the HLA class II region associated with nonobstructive az... | Endometriosis & Uterine Health | Strong | |
| rs5934505 | FAM9B | Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA... | Reproductive Hormones | Strong | |
| rs2479106 | DENND1A | Intronic variant in the androgen-regulating DENND1A gene associated with poly... | Fertility & Ovarian Function | Strong | |
| rs3783550 | IL1A | Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio... | Endometriosis & Uterine Health | Moderate | |
| rs6162 | CYP17A1 His46= | Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ... | Reproductive Hormones | Moderate | |
| rs28416520 | PIWIL1 PIWIL1 piRNA Pathway Variant | A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ... | Fertility & Ovarian Function | Moderate | |
| rs3820282 | WNT4 | Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit... | Endometriosis & Uterine Health | Strong | |
| rs314276 | LIN28B | Intronic variant in LIN28B associated with puberty timing — the C allele may ... | Fertility & Ovarian Function | Established | |
| rs4762326 | VEZT VEZT Endometriosis Cell Adhesion Variant | Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o... | Endometriosis & Uterine Health | Strong | |
| rs700519 | CYP19A1 Arg264Cys | Coding variant in aromatase that substitutes cysteine for arginine at positio... | Reproductive Hormones | Moderate | |
| rs4806660 | TMEM150B | Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa... | Endometriosis & Uterine Health | Strong | |
| rs7167936 | CYP19A1 CYP19A1 intronic variant | Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b... | Reproductive Hormones | Emerging | |
| rs4848306 | IL1B | IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the... | Endometriosis & Uterine Health | Emerging | |
| rs4944653 | PRSS23 PRSS23 Ovarian Serine Protease | An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr... | Fertility & Ovarian Function | Moderate | |
| rs1799817 | INSR His1085His | Synonymous variant in the tyrosine kinase domain of the insulin receptor; the... | Blood Sugar & Diabetes | Moderate | |
| rs6165 | FSHR Ala307Thr (T307A) | Missense variant in the extracellular domain of the FSH receptor that removes... | Fertility & Ovarian Function | Strong | |
| rs7594951 | SRD5A2 SRD5A2 intron 4 regulatory variant | Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor... | Reproductive Hormones | Emerging | |
| rs7759938 | LIN28B | Regulatory variant near LIN28B associated with puberty timing — the T allele ... | Fertility & Ovarian Function | Established | |
| rs547025 | SIRT3 | Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate... | Endometriosis & Uterine Health | Moderate | |
| rs9340799 | ESR1 XbaI polymorphism | Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi... | Reproductive Hormones | Moderate | |
| rs9393800 | SYCP2L SYCP2L GWAS hit for age at natural menopause | Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with... | Fertility & Ovarian Function | Strong | |
| rs6542095 | IL1A IL1A rs6542095 | Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m... | Endometriosis & Uterine Health | Moderate | |
| rs72709458 | TERT | Intronic TERT variant that increases uterine fibroid (leiomyoma) risk | Endometriosis & Uterine Health | Strong | |
| rs7521902 | WNT4 | Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ... | Endometriosis & Uterine Health | Strong | |
| rs7907606 | STN1 | Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kin... | Endometriosis & Uterine Health | Moderate | |
| rs7986407 | FOXO1 | Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppres... | Endometriosis & Uterine Health | Strong | |
| rs932764 | PLCE1 | Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate... | Endometriosis & Uterine Health | Strong | |
| rs9383935 | CCDC170 | 3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel... | Endometriosis & Uterine Health | 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 | |
| rs35887622 | GJB2 M34T | Connexin 26 missense variant causing partial loss of cochlear gap junction fu... | Neurology & Cognition | Established |