SMPD1

sphingomyelin phosphodiesterase 1

Summary

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

Known Variants719 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7103750	11:6,411,319	C/G	—	benign
rs573977383	11:6,411,512	G/A	—	likely benign
rs185097277	11:6,411,574	G/C	—	likely benign
rs2682090	11:6,411,600	C/G	—	benign
rs114874902	11:6,411,697	G/A	—	likely benign
rs79282481	11:6,411,784	G/C	—	likely benign
rs767402489	11:6,411,790	A/T	—	uncertain significance
rs375787350	11:6,411,817	G/A	—	uncertain significance
rs2493798301	11:6,411,834	C/T	—	likely benign
rs199836262	11:6,411,836	G/A	—	conflicting classifications of pathogenicity
rs2134004441	11:6,411,837	C/T	—	likely benign
rs1400503556	11:6,411,838	T/C	—	uncertain significance
rs2493798419	11:6,411,852	C/A	—	likely benign
rs373013062	11:6,411,854	G/T	—	uncertain significance
rs1205990349	11:6,411,856	C/T	—	pathogenic
rs1847855057	11:6,411,858	G/A	—	likely benign
rs2493798495	11:6,411,861	C/T	—	likely benign
rs767287886	11:6,411,864	C/T	—	likely benign
rs775473869	11:6,411,867	C/T	—	conflicting classifications of pathogenicity
rs1472913994	11:6,411,873	C/T	—	likely benign
rs1238859121	11:6,411,877	C/A	—	likely benign
rs764126465	11:6,411,878	G/A	—	uncertain significance
rs1428487333	11:6,411,880	G/T	—	pathogenic
rs144465428	11:6,411,884	A/G	—	conflicting classifications of pathogenicity
rs538153468	11:6,411,886	G/A	—	uncertain significance
rs2493798676	11:6,411,888	A/G	—	likely benign
rs1554933751	11:6,411,889	C/T	—	pathogenic
rs886048444	11:6,411,894	C/T	—	conflicting classifications of pathogenicity
rs886043870	11:6,411,900	C/A	—	conflicting classifications of pathogenicity
rs1312090680	11:6,411,903	C/T	—	conflicting classifications of pathogenicity
rs766822201	11:6,411,904	G/A	—	uncertain significance
rs556155962	11:6,411,911	C/T	—	conflicting classifications of pathogenicity
rs577769499	11:6,411,912	C/G	—	likely benign
rs748793138	11:6,411,918	C/A	—	conflicting classifications of pathogenicity
rs2134005000	11:6,411,921	T/C	—	likely benign
rs1554933780	11:6,411,923	G/A	—	pathogenic
rs786204506	11:6,411,924	G/A	stop gained	pathogenic
rs142178073	11:6,411,927	G/A	—	likely benign
rs1554933790	11:6,411,929	G/A	—	uncertain significance
rs889113421	11:6,411,930	C/G	—	conflicting classifications of pathogenicity
rs201367689	11:6,411,931	C/G	—	conflicting classifications of pathogenicity
rs2134005231	11:6,411,933	G/C	—	likely benign
rs141685473	11:6,411,934	G/T	—	uncertain significance
rs1050228	11:6,411,935	T/C	—	benign
rs61729852	11:6,411,936	G/T	—	likely benign
rs71467507	11:6,411,941	C/A	—	uncertain significance
rs886043098	11:6,411,942	—	—	pathogenic
rs1195507316	11:6,411,942	G/T	—	likely benign
rs1847864154	11:6,411,943	C/T	—	likely benign
rs1299899778	11:6,411,946	G/C	—	uncertain significance
rs1847864828	11:6,411,948	G/T	—	likely benign
rs571806745	11:6,411,954	G/A	—	likely benign
rs1554933861	11:6,411,960	G/T	—	likely benign
rs150867628	11:6,411,963	G/T	—	likely benign
rs200763765	11:6,411,966	G/T	—	conflicting classifications of pathogenicity
rs751904073	11:6,411,972	T/G	—	likely benign
rs2493799960	11:6,411,975	G/A	—	likely benign
rs781675416	11:6,411,976	T/C	—	uncertain significance
rs1847868322	11:6,411,978	T/C	—	likely benign
rs748589919	11:6,411,980	A/T	—	conflicting classifications of pathogenicity
rs2493799998	11:6,411,981	C/T	—	likely benign
rs778362370	11:6,411,983	C/T	—	uncertain significance
rs1457944771	11:6,411,984	T/C	—	likely benign
rs375248757	11:6,411,990	T/C	—	likely benign
rs2493800112	11:6,411,992	T/A	—	uncertain significance
rs2134006149	11:6,411,995	G/A	—	pathogenic
rs1057516722	11:6,411,996	G/A	stop gained	pathogenic
rs2493800159	11:6,411,999	T/C	—	likely benign
rs368143181	11:6,412,002	G/A	—	likely benign
rs1235402970	11:6,412,014	C/T	—	likely benign
rs770037147	11:6,412,026	C/T	—	likely benign
rs1057516931	11:6,412,027	C/T	stop gained	pathogenic
rs2493800390	11:6,412,038	T/C	—	likely benign
rs375224040	11:6,412,039	G/A	—	uncertain significance
rs759887657	11:6,412,041	C/T	—	likely benign
rs1847872800	11:6,412,043	G/T	—	uncertain significance
rs1564922040	11:6,412,049	A/C	—	uncertain significance
rs560531338	11:6,412,057	G/A	—	conflicting classifications of pathogenicity
rs575601110	11:6,412,062	C/T	—	conflicting classifications of pathogenicity
rs201647015	11:6,412,064	G/A	—	conflicting classifications of pathogenicity
rs868423827	11:6,412,069	C/T	stop gained	pathogenic
rs368200803	11:6,412,081	G/A	—	likely benign
rs1554933929	11:6,412,083	G/A	—	conflicting classifications of pathogenicity
rs2134006592	11:6,412,085	G/A	—	pathogenic
rs1847877445	11:6,412,101	C/G	—	uncertain significance
rs2134006684	11:6,412,104	A/G	—	likely benign
rs913533196	11:6,412,105	A/G	—	uncertain significance
rs886044321	11:6,412,111	A/C	—	uncertain significance
rs2493800817	11:6,412,113	A/G	—	likely benign
rs1847878243	11:6,412,118	T/C	—	likely pathogenic
rs144428799	11:6,412,119	A/G	—	conflicting classifications of pathogenicity
rs759645398	11:6,412,123	A/G	—	uncertain significance
rs146630228	11:6,412,125	C/G	—	conflicting classifications of pathogenicity
rs2134006790	11:6,412,127	C/A	—	uncertain significance
rs373475928	11:6,412,133	A/G	—	uncertain significance
rs1847879646	11:6,412,137	C/G	—	likely benign
rs757958025	11:6,412,140	G/A	—	likely benign
rs751269562	11:6,412,142	T/C	—	pathogenic
rs2134006862	11:6,412,143	G/C	—	likely benign
rs2134006884	11:6,412,147	G/C	—	pathogenic

Showing 100 of 719 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.