rs116046250
This is a intron variant variant in the GABRG3 gene.
▶Research that mentions this SNP (1)
▶Identification of novel epithelial ovarian cancer loci in women of African ancestryAssociationN=1,990Ani Manichaikul et al.(2020)· International Journal of Cancer
Genome-wide association study of epithelial ovarian cancer in 755 African ancestry cases and 1,235 controls identified 4 novel loci associated with overall EOC (rs4525119 in AKR1C3 p=4.9×10⁻⁷, rs7643459 in LOC101927394 p=8.4×10⁻⁷, rs4286604 near UGT2A2 p=8.5×10⁻⁷, rs142091544 near WWC1 p=9.4×10⁻⁷) and 6 loci for high-grade serous ovarian carcinoma (rs37792 near FST p=6.0×10⁻⁸, rs57403204 near MAGEC1 p=1.7×10⁻⁷, rs79079890 in LOC105376360 p=3.0×10⁻⁷, rs66459581 near PRPSAP1 p=5.1×10⁻⁷, rs116046250 in GABRG3 p=8.7×10⁻⁷, rs192876988 near GK2 p=9.2×10⁻⁷). The GK2 SNP showed inverse association with EOC in European women (p=0.002) and eQTL evidence for decreased GK2 expression (p=0.004). A European ancestry-derived polygenic risk score showed positive association with EOC in African ancestry women (OR=1.20 per SD, p=4.46×10⁻⁹).
About GABRG3
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
View all GABRG3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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