SMAD9

SMAD family member 9

Summary

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs517297	13:37,421,843	C/T	—	uncertain significance
rs511674	13:37,422,515	T/C	—	benign
rs489646	13:37,422,613	T/G	—	benign
rs2762140	13:37,422,766	C/T	—	benign
rs75169849	13:37,422,882	T/G	—	likely benign
rs1286688113	13:37,422,935	G/A	—	uncertain significance
rs4943431	13:37,423,032	G/A	—	benign
rs61950365	13:37,423,221	C/G	—	likely benign
rs114190398	13:37,423,223	C/T	—	likely benign
rs190523686	13:37,427,417	G/A	—	likely benign
rs374987262	13:37,427,539	T/G	—	likely benign
rs1196179939	13:37,427,556	C/G	—	uncertain significance
rs863223772	13:37,427,573	G/A	—	uncertain significance
rs375901971	13:37,427,603	C/T	—	uncertain significance
rs755637337	13:37,427,604	G/A	—	likely benign
rs779557889	13:37,427,615	C/T	—	uncertain significance
rs1490771687	13:37,427,624	C/A	—	uncertain significance
rs1593548211	13:37,427,625	T/C	—	likely benign
rs562953157	13:37,427,655	G/T	—	uncertain significance
rs142213379	13:37,427,660	T/C	—	conflicting classifications of pathogenicity
rs151258138	13:37,427,676	G/A	—	likely benign
rs111587616	13:37,427,682	G/A	—	likely benign
rs140504903	13:37,427,699	C/T	—	uncertain significance
rs753371762	13:37,427,718	G/A	—	likely benign
rs146564429	13:37,427,725	T/C	—	uncertain significance
rs886050170	13:37,427,728	T/C	—	uncertain significance
rs746879395	13:37,427,743	T/C	—	uncertain significance
rs141357701	13:37,427,769	G/A	—	likely benign
rs1284819257	13:37,427,771	A/C	—	uncertain significance
rs375386551	13:37,427,774	C/T	—	uncertain significance
rs150237947	13:37,427,781	C/T	—	likely benign
rs201526019	13:37,427,796	G/A	—	benign
rs368571123	13:37,427,800	T/C	—	uncertain significance
rs149015682	13:37,427,805	G/C	—	uncertain significance
rs369967185	13:37,427,818	G/A	—	likely benign
rs146507864	13:37,427,820	C/T	—	likely benign
rs145578247	13:37,428,033	C/T	—	likely benign
rs767433709	13:37,439,682	A/G	—	uncertain significance
rs2138380209	13:37,439,694	G/A	—	uncertain significance
rs752874017	13:37,439,706	G/A	—	uncertain significance
rs747243790	13:37,439,711	G/A	—	likely benign
rs2500667885	13:37,439,720	T/C	—	likely benign
rs2500668044	13:37,439,726	A/C	—	likely benign
rs781563938	13:37,439,727	G/C	—	uncertain significance
rs2058224683	13:37,439,731	G/C	—	uncertain significance
rs143817493	13:37,439,757	T/C	—	conflicting classifications of pathogenicity
rs369783485	13:37,439,770	C/T	—	uncertain significance
rs397514716	13:37,439,797	G/A	stop gained	pathogenic
rs1363208853	13:37,439,798	G/A	—	likely benign
rs553369182	13:37,439,827	G/A	—	pathogenic
rs142675092	13:37,439,849	G/A	—	likely benign
rs374907507	13:37,439,852	C/T	—	likely benign
rs769776934	13:37,439,875	C/T	—	uncertain significance
rs2058227311	13:37,439,885	T/A	—	likely benign
rs78249575	13:37,439,889	C/T	—	conflicting classifications of pathogenicity
rs3748305	13:37,439,964	A/C	—	benign
rs485033	13:37,440,061	T/C	—	benign
rs678037	13:37,440,069	C/T	—	benign
rs1536654	13:37,440,146	C/T	—	benign
rs7996830	13:37,440,152	T/C	—	benign
rs900040342	13:37,441,392	T/C	—	likely benign
rs2138394060	13:37,441,393	G/A	—	likely benign
rs1483242599	13:37,441,401	G/A	—	likely benign
rs770716081	13:37,441,408	A/T	—	conflicting classifications of pathogenicity
rs372254094	13:37,441,423	C/T	—	likely benign
rs549928610	13:37,441,424	G/A	—	uncertain significance
rs146836873	13:37,441,435	A/G	—	likely benign
rs79733377	13:37,441,448	G/T	—	benign
rs547463962	13:37,441,506	G/A	—	likely benign
rs1429353457	13:37,441,512	G/T	—	uncertain significance
rs9576126	13:37,446,711	G/T	—	benign
rs116137051	13:37,446,762	C/T	—	likely benign
rs1389840294	13:37,446,781	T/C	—	likely benign
rs745716683	13:37,446,806	T/C	—	uncertain significance
rs552330205	13:37,446,843	G/C	—	conflicting classifications of pathogenicity
rs121918359	13:37,446,859	G/A	synonymous variant	pathogenic
rs934648707	13:37,446,862	C/A	—	likely benign
rs549804192	13:37,446,880	G/A	—	likely benign
rs760735946	13:37,446,890	G/A	—	uncertain significance
rs2138436681	13:37,446,898	G/C	—	likely benign
rs1566022560	13:37,446,902	G/A	—	uncertain significance
rs150572172	13:37,446,910	C/T	—	likely benign
rs1002666404	13:37,446,911	G/A	—	uncertain significance
rs1251658266	13:37,446,925	A/G	—	likely benign
rs765643713	13:37,446,928	G/C	—	uncertain significance
rs377089593	13:37,446,943	G/A	—	likely benign
rs573969977	13:37,446,958	T/A	—	likely benign
rs61753157	13:37,446,978	C/T	—	likely benign
rs149757390	13:37,446,979	G/A	—	likely benign
rs200651392	13:37,446,983	C/T	—	uncertain significance
rs748133390	13:37,447,003	G/A	—	likely benign
rs1424798053	13:37,447,015	A/G	—	likely benign
rs138822893	13:37,447,016	T/C	—	conflicting classifications of pathogenicity
rs763467279	13:37,447,028	C/T	—	likely benign
rs199957237	13:37,447,031	G/T	—	likely benign
rs370508752	13:37,447,035	C/A	—	likely benign
rs901771280	13:37,447,059	T/C	—	likely benign
rs77856468	13:37,447,258	C/T	—	likely benign
rs373232255	13:37,453,397	G/A	—	likely benign
rs954075860	13:37,453,400	G/A	—	likely benign

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.