Tag

Reproductive Health

124 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	Reproductive Health	Moderate
rs10183486	TLK1	Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs1046089	PRRC2A Arg1740His	Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat...	Fertility & Ovarian Function	Reproductive Health	Strong
rs104894085	STAR Q258X (c.772C>T)	Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote...	Reproductive Hormones	Reproductive Health	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	Reproductive Health	Strong
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Reproductive Health	Established
rs10804920	TP63 TP63 oocyte apoptosis checkpoint variant	Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in prim...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Reproductive Health	Established
rs1054564	GDF15 GDF15 3'UTR rs1054564	3'UTR variant that controls GDF15 expression via microRNA regulation — C alle...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs10773771	PIWIL1 PIWIL1 3'UTR C>T	A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and mo...	Fertility & Ovarian Function	Reproductive Health	Emerging
rs116098458	KIF2B	Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden...	Gamete Quality & DNA Repair	Reproductive Health	Moderate
rs104894137	CYP17A1 Pro342Thr	Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act...	Reproductive Hormones	Reproductive Health	Strong
rs10835638	FSHB c.-211G>T	Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se...	Fertility & Ovarian Function	Reproductive Health	Strong
rs10859871	VEZT	Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Reproductive Health	Strong
rs12651246	HELQ HELQ Helicase Meiotic Repair Variant	An intronic variant in HELQ (helicase, POLQ-like) on chromosome 4q21.23; the ...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs104894138	CYP17A1 Arg96Trp (R96W)	Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ...	Reproductive Hormones	Reproductive Health	Established
rs11674184	GREB1 GREB1 Estrogen-Responsive Endometriosis Variant	Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs1635501	EXO1 EXO1 rs1635501	Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Reproductive Health	Established
rs11031006	FSHB	Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d...	Fertility & Ovarian Function	Reproductive Health	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs104894142	CYP17A1 R362C (Arg362Cys)	Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly...	Reproductive Hormones	Reproductive Health	Established
rs1172816	BRSK1 BRSK1 Ovarian Reserve Variant	Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13....	Fertility & Ovarian Function	Reproductive Health	Strong
rs12688128	IL1RAPL2 IL1RAPL2 Intron Variant	X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exc...	Endometriosis & Uterine Health	Reproductive Health	Emerging
rs104894143	CYP17A1 W406R (Trp406Arg)	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Reproductive Health	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Neurology & Cognition	Reproductive Health	Established
rs1137101	LEPR Q223R (Gln223Arg)	Common leptin receptor variant in the leptin-binding domain affecting satiety...	Hormones & Sleep	Reproductive Health	Moderate
rs12470652	LHCGR Asn291Ser (N291S)	Missense variant in the LH/hCG receptor producing a gain-of-function increase...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Endometriosis & Uterine Health	Reproductive Health	Established
rs2032582	ABCB1 G2677T/A (Ser893Ala/Thr)	Triallelic missense variant in the P-glycoprotein efflux pump that reduces th...	Gamete Quality & DNA Repair	Reproductive Health	Moderate
rs1159327	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha associated with bone mineral dens...	Reproductive Hormones	Reproductive Health	Moderate
rs12478601	THADA THADA PCOS/Insulin Resistance	Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th...	Fertility & Ovarian Function	Reproductive Health	Strong
rs12870438	EPSTI1	Intronic variant in the immune-response gene EPSTI1, associated in recessive ...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs2147349	XPO4	Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age...	Gamete Quality & DNA Repair	Reproductive Health	Moderate
rs121908866	TSHR W546X	Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH...	Reproductive Hormones	Reproductive Health	Strong
rs13154066	NPR3	Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs13405728	LHCGR	Intronic variant in the LH/choriogonadotropin receptor gene associated with P...	Fertility & Ovarian Function	Reproductive Health	Strong
rs2277339	PRIM1 PRIM1 Asp5Ala missense variant	Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs1238574	SULT1E1 SULT1E1 intronic variant	Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter...	Reproductive Hormones	Reproductive Health	Emerging
rs13164856	IRF1	PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs16991615	MCM8 E341K	Missense variant in the MCM8 DNA repair helicase associated with ovarian rese...	Fertility & Ovarian Function	Reproductive Health	Strong
rs1800386	VWF Tyr1584Cys	Low-penetrance variant in von Willebrand factor that causes enhanced protein ...	Von Willebrand & Anticoagulant Proteins	Reproductive Health	Strong
rs13394619	GREB1	Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...	Endometriosis & Uterine Health	Reproductive Health	Established
rs137852689	STAR R217T (Arg217Thr)	Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein...	Reproductive Hormones	Reproductive Health	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	Reproductive Health	Moderate
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Reproductive Health	Established
rs2153157	SYCP2L SYCP2L splice-efficiency variant	Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more...	Fertility & Ovarian Function	Reproductive Health	Strong
rs2305957	HSPA4L	Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the...	Gamete Quality & DNA Repair	Reproductive Health	Moderate
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Reproductive Health	Established
rs1529868	GREB1 GREB1 rs1529868	Intronic GREB1 variant at 2p25.1 (c.772+34) in high LD (r²=0.853 CEU) with th...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs2178575	ERBB4 ERBB4/HER4 PCOS Folliculogenesis	An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ER...	Fertility & Ovarian Function	Reproductive Health	Strong
rs2268797	SRD5A2 SRD5A2 intronic variant	Intronic variant in SRD5A2 tagging haplotype backgrounds that differ in 5-alp...	Reproductive Hormones	Reproductive Health	Emerging
rs137853097	HSD17B4 N457Y	Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;...	Metabolic Enzymes & Rare Disorders	Reproductive Health	Established
rs2268361	FSHR FSHR Intronic Variant (c.669-5590)	Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs236114	MCM8	Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs2414095	CYP19A1	Intronic variant in the aromatase gene associated with lower circulating estr...	Reproductive Hormones	Reproductive Health	Strong
rs1903068	KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant	Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs2268363	FSHR FSHR ART Response Variant	Intronic variant in the FSH receptor gene; identified in a genome-wide associ...	Fertility & Ovarian Function	Reproductive Health	Emerging
rs2414096	CYP19A1 CYP19A1 intron 4 polymorphism	Intronic CYP19A1 polymorphism associated with variation in aromatase expressi...	Reproductive Hormones	Reproductive Health	Moderate
rs244715	ZNF346	Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP...	Gamete Quality & DNA Repair	Reproductive Health	Strong
rs1971256	CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant	Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs2271194	ERBB3 ERBB3/RAB5B PCOS Metabolic	A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep...	Fertility & Ovarian Function	Reproductive Health	Strong
rs258750	NR3C1 NR3C1 Intronic Variant (c.2181+244A>G)	Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks ...	Reproductive Hormones	Reproductive Health	Moderate
rs2046210	ESR1 ESR1 rs2046210	Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Ovarian Function	Reproductive Health	Strong
rs2747648	ESR1 ESR1 3′UTR miR-453 site	3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity...	Reproductive Hormones	Reproductive Health	Moderate
rs3734637	HEY2	A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor ex...	Gamete Quality & DNA Repair	Reproductive Health	Emerging
rs2206949	ESR1 ESR1 Intronic Endometriosis Variant	Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Ovarian Function	Reproductive Health	Strong
rs2883929	NR3C2 NR3C2 I3 intron variant	Intronic variant in the mineralocorticoid receptor gene associated with alter...	Reproductive Hormones	Reproductive Health	Moderate
rs2456181	ZNF346	Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with ...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs2479106	DENND1A	Intronic variant in the androgen-regulating DENND1A gene associated with poly...	Fertility & Ovarian Function	Reproductive Health	Strong
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Reproductive Health	Strong
rs28416520	PIWIL1 PIWIL1 piRNA Pathway Variant	A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs2856836	IL1A	3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs3889728	AGT AGT Intronic Variant	Intronic variant in the angiotensinogen (AGT) gene; the T allele has been inc...	Reproductive Hormones	Reproductive Health	Emerging
rs853854	MAPRE1 MAPRE1/EB1 Spindle Stability	An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident...	Gamete Quality & DNA Repair	Reproductive Health	Moderate
rs28941784	MMAB Arg186Trp (R186W)	Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo...	Vitamins & Nutrient Absorption	Reproductive Health	Established
rs3129878	HLA-DRA HLA-DRA Variant	Intronic variant in the HLA class II region associated with nonobstructive az...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs314276	LIN28B	Intronic variant in LIN28B associated with puberty timing — the C allele may ...	Fertility & Ovarian Function	Reproductive Health	Established
rs4704397	PDE8B PDE8B TSH-associated variant	Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser...	Reproductive Hormones	Reproductive Health	Strong
rs3750243	EIF4EBP1 EIF4EBP1 mTOR Pathway Variant	Regulatory variant 2 kb upstream of EIF4EBP1 (encoding 4E-BP1, a direct mTOR ...	Fertility & Ovarian Function	Reproductive Health	Strong
rs3783550	IL1A	Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs3820282	WNT4	Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs5934505	FAM9B	Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA...	Reproductive Hormones	Reproductive Health	Strong
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	Reproductive Health	Moderate
rs4762326	VEZT VEZT Endometriosis Cell Adhesion Variant	Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs4944653	PRSS23 PRSS23 Ovarian Serine Protease	An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs6162	CYP17A1 His46=	Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ...	Reproductive Hormones	Reproductive Health	Moderate
rs4806660	TMEM150B	Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs6165	FSHR Ala307Thr (T307A)	Missense variant in the extracellular domain of the FSH receptor that removes...	Fertility & Ovarian Function	Reproductive Health	Strong
rs4848306	IL1B	IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the...	Endometriosis & Uterine Health	Reproductive Health	Emerging
rs700519	CYP19A1 Arg264Cys	Coding variant in aromatase that substitutes cysteine for arginine at positio...	Reproductive Hormones	Reproductive Health	Moderate
rs7759938	LIN28B	Regulatory variant near LIN28B associated with puberty timing — the T allele ...	Fertility & Ovarian Function	Reproductive Health	Established
rs7167936	CYP19A1 CYP19A1 intronic variant	Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b...	Reproductive Hormones	Reproductive Health	Emerging
rs7852296	DENND1A DENND1A PCOS Susceptibility Variant	An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly rep...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs804279	GATA4 GATA4/NEIL2 PCOS Susceptibility	Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w...	Fertility & Ovarian Function	Reproductive Health	Moderate
rs547025	SIRT3	Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs9348724	SYCP2L SYCP2L synaptonemal complex variant	Regulatory variant 2 kb upstream of SYCP2L; each copy of the minor C allele a...	Fertility & Ovarian Function	Reproductive Health	Strong
rs6542095	IL1A IL1A rs6542095	Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs7594951	SRD5A2 SRD5A2 intron 4 regulatory variant	Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor...	Reproductive Hormones	Reproductive Health	Emerging
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	Reproductive Health	Strong
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Reproductive Health	Established
rs6757908	EIF2AK3-AS1	Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r...	Endometriosis & Uterine Health	Reproductive Health	Emerging
rs80358216	HSD3B2 Trp171X	Pathogenic nonsense variant introducing a premature stop codon at position 17...	Reproductive Hormones	Reproductive Health	Established
rs1799817	INSR His1085His	Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...	Blood Sugar & Diabetes	Reproductive Health	Moderate
rs71575922	SYNE1 SYNE1 Endometriosis Pain Subphenotype Variant	An intronic variant in SYNE1 (Nesprin-1) at the 6q25.1 locus, first identifie...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs858518	SHBG SHBG intronic regulatory variant	Intronic variant within the SHBG gene that participates in a haplotype (with ...	Reproductive Hormones	Reproductive Health	Moderate
rs72709458	TERT	Intronic TERT variant that increases uterine fibroid (leiomyoma) risk through...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs9340799	ESR1 XbaI polymorphism	Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi...	Reproductive Hormones	Reproductive Health	Moderate
rs73625113	ESR1 ESR1 rs73625113	An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a hi...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs7521902	WNT4	Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs7907606	STN1	Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kin...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs7986407	FOXO1	Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppres...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs932764	PLCE1	Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate...	Endometriosis & Uterine Health	Reproductive Health	Strong
rs9383935	CCDC170	3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...	Endometriosis & Uterine Health	Reproductive Health	Moderate
rs587776949	NDUFS4	Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho...	Longevity & Aging	Reproductive Health	Established
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Reproductive Health	Established
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	Reproductive Health	Strong
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	Reproductive Health	Strong
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Neurology & Cognition	Reproductive Health	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Neurology & Cognition	Reproductive Health	Established
rs80338943	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Neurology & Cognition	Reproductive Health	Established