Tag

Reproductive Health

34 genetic variants with this tag.

RSID	Gene	Description	Category
rs2479106	DENND1A	Intronic variant in the androgen-regulating DENND1A gene associated with poly...	Fertility & Reproductive Health	PCOS Fertility Reproductive Health	Strong
rs13405728	LHCGR	Intronic variant in the LH/choriogonadotropin receptor gene associated with P...	Fertility & Reproductive Health	PCOS Fertility Reproductive Health	Strong
rs13164856	IRF1	PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele...	Fertility & Reproductive Health	PCOS Fertility Reproductive Health	Strong
rs10835638	FSHB c.-211G>T	Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se...	Fertility & Reproductive Health	Fertility Gonadotropins Male Fertility	Strong
rs11031006	FSHB	Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d...	Fertility & Reproductive Health	Fertility Hormones Gonadotropins	Strong
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Fertility & Reproductive Health	Endometriosis Reproductive Health Fertility	Established
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	Hormones & Thyroid Reproductive Health Steroid Hormones	Strong
rs16991615	MCM8 E341K	Missense variant in the MCM8 DNA repair helicase associated with ovarian rese...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs1046089	PRRC2A Arg1740His	Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat...	Fertility & Reproductive Health	Menopause Ovarian Reserve Reproductive Health	Strong
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs7759938	LIN28B	Regulatory variant near LIN28B associated with puberty timing — the T allele ...	Fertility & Reproductive Health	Puberty Timing Fertility Reproductive Health	Established
rs12870438	EPSTI1	Intronic variant in the immune-response gene EPSTI1, associated in recessive ...	Fertility & Reproductive Health	Male Fertility Sperm Quality Fertility	Moderate
rs6165	FSHR Ala307Thr (T307A)	Missense variant in the extracellular domain of the FSH receptor that removes...	Fertility & Reproductive Health	Fertility Reproductive Health IVF	Strong
rs13394619	GREB1	Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...	Fertility & Reproductive Health	Endometriosis Fertility Reproductive Health	Established
rs7521902	WNT4	Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ...	Fertility & Reproductive Health	Endometriosis Uterine Fibroids Fertility	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Fertility & Reproductive Health	Endometriosis Fertility Reproductive Health	Strong
rs314276	LIN28B	Intronic variant in LIN28B associated with puberty timing — the C allele may ...	Fertility & Reproductive Health	Puberty Timing Fertility Reproductive Health	Established
rs244715	ZNF346	Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs10183486	TLK1	Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr...	Fertility & Reproductive Health	Ovarian Reserve Fertility Reproductive Health	Strong
rs932764	PLCE1	Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate...	Fertility & Reproductive Health	Preeclampsia Fertility Reproductive Health	Strong
rs13154066	NPR3	Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ...	Fertility & Reproductive Health	Preeclampsia Fertility Reproductive Health	Strong
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	Reproductive Health Hormones Fertility	Strong
rs547025	SIRT3	Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate...	Fertility & Reproductive Health	Uterine Fibroids Fertility Reproductive Health	Moderate
rs7986407	FOXO1	Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppres...	Fertility & Reproductive Health	Uterine Fibroids Fertility Reproductive Health	Strong
rs4806660	TMEM150B	Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa...	Fertility & Reproductive Health	Ovarian Reserve Fertility Reproductive Health	Strong
rs700519	CYP19A1 Arg264Cys	Coding variant in aromatase that substitutes cysteine for arginine at positio...	Fertility & Reproductive Health	Aromatase Fertility Reproductive Health	Moderate
rs2305957	HSPA4L	Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the...	Fertility & Reproductive Health	Male Fertility Sperm Quality Fertility	Moderate
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Reproductive Health	Reproductive Health Hormones Fertility	Strong
rs1137101	LEPR Q223R (Gln223Arg)	Common leptin receptor variant affecting satiety signaling and metabolic health	Nutrition & Metabolism	Nutrition & Metabolism Obesity Diabetes	Moderate
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs35887543	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Brain & Mental Health	Hearing Loss Sensorineural Carrier Status	Established