FSHR

follicle stimulating hormone receptor

Summary

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Known Variants149 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7596252	2:49,189,298	A/G	—	uncertain significance
rs80295823	2:49,189,309	A/G	—	likely benign
rs117897604	2:49,189,551	T/A	—	conflicting classifications of pathogenicity
rs72873077	2:49,189,616	G/A	—	benign
rs72825259	2:49,189,626	A/T	—	likely benign
rs886056148	2:49,189,673	T/C	—	uncertain significance
rs1674271811	2:49,189,699	C/T	—	uncertain significance
rs140106399	2:49,189,761	A/G	—	likely benign
rs547208879	2:49,189,894	A/G	—	uncertain significance
rs6166	2:49,189,921	C/T	missense variant	benign
rs1297493099	2:49,189,972	T/G	—	uncertain significance
rs2528369124	2:49,189,978	G/A	—	uncertain significance
rs780079274	2:49,190,058	G/A	—	uncertain significance
rs535994306	2:49,190,075	A/T	—	uncertain significance
rs1674297842	2:49,190,098	G/A	—	likely pathogenic
rs886056149	2:49,190,129	G/C	—	uncertain significance
rs755026030	2:49,190,148	C/T	—	likely benign
rs386833513	2:49,190,159	G/C	missense variant	pathogenic
rs2103990288	2:49,190,197	A/G	—	likely pathogenic
rs386833512	2:49,190,200	G/T	missense variant	pathogenic
rs768038206	2:49,190,208	G/A	—	uncertain significance
rs386833511	2:49,190,236	G/A	missense variant	pathogenic
rs121909660	2:49,190,243	G/A	missense variant	pathogenic
rs28928871	2:49,190,261	C/T	missense variant	pathogenic
rs200482566	2:49,190,276	C/T	—	likely benign
rs757713421	2:49,190,277	G/A	—	likely benign
rs781730288	2:49,190,280	G/A	—	likely benign
rs201903308	2:49,190,283	G/A	—	uncertain significance
rs773713354	2:49,190,288	T/G	—	uncertain significance
rs374191266	2:49,190,291	G/A	—	uncertain significance
rs200144377	2:49,190,296	G/A	—	uncertain significance
rs121909664	2:49,190,326	A/G	missense variant	pathogenic
rs757909841	2:49,190,364	C/T	—	uncertain significance
rs138281715	2:49,190,384	A/G	—	uncertain significance
rs6167	2:49,190,388	G/C	—	conflicting classifications of pathogenicity
rs121909662	2:49,190,405	G/T	missense variant	pathogenic
rs1674317526	2:49,190,459	C/T	—	not provided
rs770813496	2:49,190,494	A/G	—	uncertain significance
rs2528372803	2:49,190,555	G/A	—	uncertain significance
rs751002380	2:49,190,560	C/A	—	uncertain significance
rs2103991776	2:49,190,564	C/T	—	likely pathogenic
rs1674323340	2:49,190,576	C/G	—	likely pathogenic
rs1274049378	2:49,190,595	C/G	—	likely benign
rs1192417044	2:49,190,612	C/T	—	uncertain significance
rs28928870	2:49,190,614	G/A	missense variant	pathogenic
rs121909663	2:49,190,615	T/C	missense variant	pathogenic
rs371482817	2:49,190,624	C/T	—	likely pathogenic
rs202162496	2:49,190,630	C/T	—	conflicting classifications of pathogenicity
rs121909661	2:49,190,705	C/T	missense variant	pathogenic
rs2528374229	2:49,190,734	A/G	—	uncertain significance
rs760095622	2:49,190,757	C/T	—	uncertain significance
rs200532372	2:49,190,787	T/C	—	uncertain significance
rs767103311	2:49,190,803	A/G	—	uncertain significance
rs377596075	2:49,190,815	A/G	—	uncertain significance
rs1674341013	2:49,190,839	A/T	—	likely pathogenic
rs1674342844	2:49,190,866	A/G	—	uncertain significance
rs1385207514	2:49,190,887	T/A	—	uncertain significance
rs386833510	2:49,190,917	G/C	missense variant	pathogenic
rs772756688	2:49,190,930	C/G	—	uncertain significance
rs139226976	2:49,190,938	A/G	—	conflicting classifications of pathogenicity
rs6168	2:49,190,973	C/T	—	likely benign
rs780433226	2:49,190,974	G/T	—	uncertain significance
rs147685926	2:49,191,004	T/C	—	uncertain significance
rs886056150	2:49,191,013	T/C	—	uncertain significance
rs61743754	2:49,191,034	C/A	—	uncertain significance
rs6165	2:49,191,041	C/T	missense variant	benign
rs780241333	2:49,191,062	C/T	—	uncertain significance
rs769252033	2:49,191,067	C/T	—	uncertain significance
rs2103994032	2:49,191,076	G/A	—	likely pathogenic
rs1024473065	2:49,191,077	A/G	—	uncertain significance
rs750841775	2:49,195,832	C/T	—	uncertain significance
rs116444729	2:49,195,836	C/T	—	uncertain significance
rs1057524255	2:49,195,888	C/A	—	uncertain significance
rs150863050	2:49,195,905	G/A	—	conflicting classifications of pathogenicity
rs1371148214	2:49,195,957	C/T	—	uncertain significance
rs1427978053	2:49,195,981	C/T	—	uncertain significance
rs748152489	2:49,195,984	T/C	—	uncertain significance
rs367711694	2:49,196,003	T/C	—	uncertain significance
rs201122960	2:49,196,006	T/C	—	uncertain significance
rs776897994	2:49,196,008	G/A	—	likely pathogenic
rs386833515	2:49,196,020	T/A	missense variant	pathogenic
rs2268363	2:49,201,328	A/C	—	—
rs2268361	2:49,201,612	C/A	—	—
rs116400237	2:49,209,783	A/C	—	likely benign
rs386833514	2:49,210,057	A/C	missense variant	pathogenic
rs990862911	2:49,210,061	G/A	—	uncertain significance
rs777329711	2:49,210,074	G/A	—	uncertain significance
rs1239486057	2:49,210,083	A/G	—	uncertain significance
rs75552966	2:49,210,116	G/A	—	likely benign
rs201378858	2:49,210,170	A/G	—	likely benign
rs121909658	2:49,210,264	G/A	missense variant	pathogenic
rs72875918	2:49,210,342	A/G	—	benign
rs116271943	2:49,210,389	G/A	—	likely benign
rs2072488	2:49,215,977	G/A	—	benign
rs771361079	2:49,216,130	A/C	—	uncertain significance
rs142383710	2:49,216,144	C/A	—	conflicting classifications of pathogenicity
rs111883853	2:49,216,155	C/T	—	conflicting classifications of pathogenicity
rs121909659	2:49,216,161	A/G	missense variant	pathogenic
rs377031489	2:49,216,185	T/G	—	uncertain significance
rs2072487	2:49,216,284	C/T	—	benign

Showing 100 of 149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.