SRD5A2

steroid 5 alpha-reductase 2

Summary

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

Known Variants262 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3731586	2:31,749,028	T/C	coding sequence variant	—
rs61750402	2:31,749,423	T/C	—	not provided
rs1042578	2:31,749,714	C/T	—	benign
rs1665733488	2:31,749,762	T/A	—	uncertain significance
rs28383088	2:31,749,774	T/C	—	uncertain significance
rs1665735409	2:31,749,826	A/C	—	uncertain significance
rs757100337	2:31,749,844	C/T	—	uncertain significance
rs1665736847	2:31,749,882	T/C	—	uncertain significance
rs28383087	2:31,749,910	T/G	—	likely benign
rs549077867	2:31,749,976	G/C	—	uncertain significance
rs28383086	2:31,749,993	T/C	—	benign
rs1665741244	2:31,750,024	T/C	—	uncertain significance
rs886055949	2:31,750,133	T/C	—	uncertain significance
rs28383085	2:31,750,210	C/G	—	benign
rs191186592	2:31,750,285	C/T	—	likely benign
rs9332975	2:31,750,417	T/C	coding sequence variant	benign
rs61750401	2:31,750,445	T/A	—	not provided
rs886055950	2:31,750,580	C/A	—	uncertain significance
rs75984166	2:31,750,594	A/T	—	uncertain significance
rs886055951	2:31,750,652	A/T	—	uncertain significance
rs1665760528	2:31,750,694	G/A	—	uncertain significance
rs1665761786	2:31,750,756	A/C	—	uncertain significance
rs1194956705	2:31,750,874	T/G	—	uncertain significance
rs147184986	2:31,750,894	C/T	—	benign
rs542605254	2:31,750,959	T/C	—	uncertain significance
rs886055952	2:31,750,980	T/C	—	uncertain significance
rs151234587	2:31,750,988	G/A	—	uncertain significance
rs61750400	2:31,751,007	A/G	—	benign
rs28383083	2:31,751,042	T/A	—	benign
rs578234141	2:31,751,146	C/T	—	uncertain significance
rs187924868	2:31,751,147	G/A	—	uncertain significance
rs192604242	2:31,751,175	G/A	—	benign
rs370989010	2:31,751,178	A/T	—	benign
rs28383082	2:31,751,223	C/T	—	benign
rs2465619261	2:31,751,264	C/T	—	likely benign
rs587776567	2:31,751,278	—	—	pathogenic
rs2465619341	2:31,751,284	A/T	—	likely benign
rs2465619349	2:31,751,288	G/T	—	pathogenic
rs9332967	2:31,751,294	C/T	—	pathogenic
rs121434244	2:31,751,295	G/A	coding sequence variant	pathogenic
rs145712014	2:31,751,297	G/T	—	conflicting classifications of pathogenicity
rs1553323036	2:31,751,306	T/C	—	likely pathogenic
rs746237696	2:31,751,326	G/A	—	likely benign
rs772283403	2:31,751,327	T/A	—	pathogenic
rs2465619485	2:31,751,328	A/G	—	uncertain significance
rs9332966	2:31,751,329	G/C	—	conflicting classifications of pathogenicity
rs2465619515	2:31,751,333	C/T	—	pathogenic
rs764270833	2:31,751,335	A/G	—	uncertain significance
rs1291250228	2:31,751,347	A/G	—	likely benign
rs961535017	2:31,751,350	A/G	—	likely benign
rs1197189568	2:31,751,352	T/C	—	likely benign
rs754869601	2:31,754,357	G/A	—	likely benign
rs569856323	2:31,754,370	A/C	—	benign
rs747672984	2:31,754,376	C/A	—	pathogenic
rs2465624800	2:31,754,377	C/T	—	uncertain significance
rs9332965	2:31,754,379	A/G	—	benign
rs748899308	2:31,754,380	T/C	—	pathogenic
rs1057519091	2:31,754,381	G/C	coding sequence variant	pathogenic
rs121434251	2:31,754,383	T/C	coding sequence variant	pathogenic
rs1241588085	2:31,754,384	G/A	—	no classification for the single variant
rs1477486919	2:31,754,386	T/G	—	pathogenic
rs2465624845	2:31,754,388	A/G	—	likely benign
rs1553323488	2:31,754,392	G/A	—	pathogenic
rs121434249	2:31,754,393	C/T	coding sequence variant	pathogenic
rs9332964	2:31,754,395	C/T	coding sequence variant	pathogenic
rs121434248	2:31,754,396	G/A	coding sequence variant	pathogenic
rs1488349870	2:31,754,397	C/A	—	conflicting classifications of pathogenicity
rs2465624903	2:31,754,406	G/C	—	likely benign
rs765256238	2:31,754,424	T/C	—	uncertain significance
rs763054985	2:31,754,439	T/C	—	likely benign
rs121434252	2:31,754,440	G/C	coding sequence variant	pathogenic
rs1284462856	2:31,754,445	G/A	—	likely benign
rs759318152	2:31,754,452	G/A	—	pathogenic
rs1665854990	2:31,754,454	G/A	—	likely benign
rs767564684	2:31,754,455	G/T	—	pathogenic
rs755707244	2:31,754,460	G/A	—	likely benign
rs973116318	2:31,754,461	G/T	—	conflicting classifications of pathogenicity
rs9332961	2:31,754,468	C/T	—	pathogenic
rs2465625226	2:31,754,473	C/T	—	pathogenic
rs2465625232	2:31,754,474	A/T	—	uncertain significance
rs756853742	2:31,754,477	C/T	—	conflicting classifications of pathogenicity
rs28383064	2:31,754,481	G/A	—	likely benign
rs121434253	2:31,754,484	C/A	coding sequence variant	pathogenic
rs534671822	2:31,754,486	C/T	—	pathogenic
rs372906877	2:31,754,487	A/C	—	likely benign
rs2465625655	2:31,754,488	C/T	—	pathogenic
rs121434250	2:31,754,489	C/G	coding sequence variant	pathogenic
rs61750399	2:31,754,490	G/A	—	likely benign
rs61748126	2:31,754,493	G/C	—	not provided
rs763296857	2:31,754,497	T/C	—	pathogenic
rs2465625746	2:31,754,501	C/T	—	pathogenic
rs2465625753	2:31,754,504	C/T	—	uncertain significance
rs369072138	2:31,754,514	C/T	—	likely benign
rs61748125	2:31,754,515	G/A	—	not provided
rs574377752	2:31,754,521	A/G	—	uncertain significance
rs61750398	2:31,754,525	C/G	—	not provided
rs61750397	2:31,754,529	T/G	—	pathogenic
rs763759170	2:31,754,531	C/T	—	likely benign
rs753272225	2:31,754,532	G/C	—	uncertain significance
rs756730322	2:31,754,533	T/A	—	likely benign

Showing 100 of 262 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.