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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...
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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
|