Research
Tag

Male Fertility

14 genetic variants with this tag.

RSID Gene Description Category
rs10835638 FSHB c.-211G>T Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se... Fertility & Ovarian Function Strong
rs11031006 FSHB Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d... Fertility & Ovarian Function Strong
rs12688128 IL1RAPL2 IL1RAPL2 Intron Variant X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exc... Endometriosis & Uterine Health Emerging
rs12870438 EPSTI1 Intronic variant in the immune-response gene EPSTI1, associated in recessive ... Endometriosis & Uterine Health Moderate
rs16991615 MCM8 E341K Missense variant in the MCM8 DNA repair helicase associated with ovarian rese... Fertility & Ovarian Function Strong
rs2305957 HSPA4L Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the... Gamete Quality & DNA Repair Moderate
rs2268797 SRD5A2 SRD5A2 intronic variant Intronic variant in SRD5A2 tagging haplotype backgrounds that differ in 5-alp... Reproductive Hormones Emerging
rs2414095 CYP19A1 Intronic variant in the aromatase gene associated with lower circulating estr... Reproductive Hormones Strong
rs2268363 FSHR FSHR ART Response Variant Intronic variant in the FSH receptor gene; identified in a genome-wide associ... Fertility & Ovarian Function Emerging
rs4987188 MSH2 Gly322Asp Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that su... Gamete Quality & DNA Repair Moderate
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
rs498422 LOC101929163 LOC101929163 Variant Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in t... Endometriosis & Uterine Health Emerging
rs397515563 DNAI1 DNAI1 IVS19+1G>A Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of... Innate Immunity & Infection Defense Strong