ADAMTSL1

ADAMTS like 1

Summary

This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

Known Variants172 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1755289	9:17,938,351	T/C	intergenic variant	—
rs1755271	9:17,979,578	T/G	—	—
rs10963403	9:18,032,972	C/T	intergenic variant	—
rs10963431	9:18,073,785	G/T	—	—
rs2210327	9:18,109,235	A/T	intergenic variant	—
rs1944766	9:18,215,280	C/A	intergenic variant	—
rs10810935	9:18,251,855	A/T	—	—
rs7028032	9:18,362,601	T/C	upstream gene variant	—
rs6475216	9:18,444,138	C/T	intergenic variant	—
rs1340043	9:18,458,068	T/C	intergenic variant	—
rs374239134	9:18,474,250	C/G	—	uncertain significance
rs780536559	9:18,504,842	C/T	—	uncertain significance
rs779507767	9:18,504,854	G/A	—	uncertain significance
rs200963194	9:18,504,858	G/A	—	likely benign
rs61742718	9:18,504,868	A/G	—	benign
rs376196071	9:18,504,872	G/T	—	uncertain significance
rs370239851	9:18,504,873	A/C	—	uncertain significance
rs1256725703	9:18,504,920	G/T	—	uncertain significance
rs999605643	9:18,504,927	A/G	—	uncertain significance
rs769527362	9:18,504,938	C/G	—	uncertain significance
rs16936832	9:18,533,257	A/G	—	benign
rs201796434	9:18,533,268	G/A	—	uncertain significance
rs12004058	9:18,564,470	C/A	—	—
rs13299349	9:18,573,360	G/A	coding sequence variant	—
rs761271486	9:18,574,038	C/T	—	uncertain significance
rs1274512192	9:18,574,047	G/A	—	uncertain significance
rs190050504	9:18,574,071	C/T	—	uncertain significance
rs1053081501	9:18,574,093	C/A	—	uncertain significance
rs143013037	9:18,574,095	A/C	—	uncertain significance
rs1292531675	9:18,574,134	C/T	—	uncertain significance
rs557341808	9:18,574,173	C/A	—	likely benign
rs78291060	9:18,574,181	G/T	—	conflicting classifications of pathogenicity
rs758055717	9:18,622,242	T/C	—	uncertain significance
rs78573779	9:18,622,253	G/A	—	uncertain significance
rs146511703	9:18,622,274	G/A	—	likely benign
rs139380084	9:18,622,322	C/T	—	uncertain significance
rs773917063	9:18,635,980	A/G	—	uncertain significance
rs146637983	9:18,639,357	A/G	—	uncertain significance
rs376931591	9:18,639,375	T/C	—	uncertain significance
rs146551666	9:18,645,260	G/C	intron variant	—
rs776786	9:18,650,547	A/G	upstream gene variant	—
rs776776	9:18,657,558	A/G	intron variant	—
rs142112150	9:18,661,978	G/A	—	uncertain significance
rs141659739	9:18,661,995	T/G	—	uncertain significance
rs139287759	9:18,662,018	C/G	—	uncertain significance
rs747739409	9:18,662,028	A/C	—	uncertain significance
rs2539202875	9:18,675,872	T/A	—	uncertain significance
rs1198569365	9:18,680,306	G/A	—	uncertain significance
rs377335263	9:18,680,369	G/A	—	uncertain significance
rs767052805	9:18,680,441	C/T	—	uncertain significance
rs766999969	9:18,680,497	G/A	—	uncertain significance
rs758647801	9:18,680,513	C/T	—	uncertain significance
rs771035074	9:18,681,802	C/G	—	likely benign
rs776273685	9:18,681,840	T/C	—	uncertain significance
rs141742135	9:18,681,844	G/A	—	uncertain significance
rs150468859	9:18,681,880	C/A	—	uncertain significance
rs967099976	9:18,684,728	G/A	—	uncertain significance
rs2539270795	9:18,684,758	C/G	—	uncertain significance
rs369451715	9:18,706,737	G/A	—	likely benign
rs149134212	9:18,706,865	C/T	—	likely benign
rs548970910	9:18,706,897	G/A	—	uncertain significance
rs757876583	9:18,706,909	C/G	—	uncertain significance
rs755390883	9:18,706,947	G/C	—	uncertain significance
rs368872708	9:18,706,958	T/A	—	uncertain significance
rs373891228	9:18,706,964	C/T	—	likely benign
rs778427338	9:18,707,031	G/A	—	uncertain significance
rs200488775	9:18,721,576	G/A	—	likely benign
rs139604924	9:18,721,580	G/C	—	uncertain significance
rs140701236	9:18,721,615	G/A	—	uncertain significance
rs762184822	9:18,721,636	C/T	—	uncertain significance
rs541686	9:18,745,134	G/T	—	—
rs202141338	9:18,753,306	G/A	—	uncertain significance
rs1021438196	9:18,753,360	G/A	—	uncertain significance
rs200086377	9:18,753,426	C/T	—	likely benign
rs111979267	9:18,753,452	A/G	—	benign
rs375869565	9:18,753,462	C/A	—	uncertain significance
rs1978746	9:18,761,099	A/C	intron variant	—
rs548186332	9:18,766,776	G/A	—	—
rs780529314	9:18,770,634	G/A	—	uncertain significance
rs554272440	9:18,770,654	C/T	—	uncertain significance
rs200165481	9:18,770,757	G/T	—	uncertain significance
rs576805757	9:18,770,777	G/A	—	uncertain significance
rs771519241	9:18,775,747	A/C	—	uncertain significance
rs373738158	9:18,775,780	G/A	—	uncertain significance
rs2488941488	9:18,776,799	A/G	—	uncertain significance
rs1470321847	9:18,776,807	C/A	—	uncertain significance
rs748416492	9:18,776,809	C/G	—	uncertain significance
rs368562978	9:18,776,823	G/T	—	uncertain significance
rs2488941925	9:18,776,843	G/C	—	uncertain significance
rs1203511958	9:18,776,883	T/C	—	uncertain significance
rs761726262	9:18,776,904	A/C	—	uncertain significance
rs781529465	9:18,776,932	G/T	—	uncertain significance
rs532420837	9:18,776,936	G/C	—	uncertain significance
rs767992841	9:18,776,985	A/G	—	uncertain significance
rs376206965	9:18,776,988	T/A	—	uncertain significance
rs199730614	9:18,776,997	G/A	—	uncertain significance
rs770851336	9:18,777,000	A/G	—	uncertain significance
rs759016241	9:18,777,012	T/C	—	uncertain significance
rs370826847	9:18,777,019	A/G	—	uncertain significance
rs762111267	9:18,777,056	C/T	—	likely benign

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.