UBIAD1

UbiA prenyltransferase domain containing 1

Summary

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

Known Variants109 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs547031506	1:11,333,252	C/T	—	uncertain significance
rs886045057	1:11,333,278	C/T	—	uncertain significance
rs1471509365	1:11,333,279	C/T	—	uncertain significance
rs114907127	1:11,333,394	G/A	—	benign
rs559993089	1:11,333,485	G/A	—	uncertain significance
rs948937923	1:11,333,503	G/C	—	uncertain significance
rs533754690	1:11,333,511	G/C	—	uncertain significance
rs72856992	1:11,333,542	T/G	—	benign
rs770112579	1:11,333,585	T/C	—	uncertain significance
rs762090269	1:11,333,629	T/G	—	uncertain significance
rs764215999	1:11,333,648	A/C	—	likely benign
rs770127497	1:11,333,682	C/T	—	uncertain significance
rs528822096	1:11,333,700	C/A	—	uncertain significance
rs761963387	1:11,333,704	A/G	—	conflicting classifications of pathogenicity
rs1651875842	1:11,333,779	C/T	—	uncertain significance
rs114000606	1:11,333,812	C/T	—	benign
rs201583978	1:11,333,818	G/A	—	conflicting classifications of pathogenicity
rs759234615	1:11,333,865	G/A	—	uncertain significance
rs140612649	1:11,333,886	T/G	—	likely benign
rs118203945	1:11,333,893	A/G	missense variant	pathogenic
rs118203950	1:11,333,923	A/G	missense variant	pathogenic
rs35990325	1:11,333,939	T/C	—	benign
rs118203947	1:11,333,943	A/G	missense variant	pathogenic
rs748615089	1:11,333,958	C/A	—	benign
rs377764711	1:11,334,005	C/T	—	benign
rs138443305	1:11,334,040	A/G	—	benign
rs758882194	1:11,334,048	C/T	—	uncertain significance
rs886045058	1:11,334,082	T/G	—	uncertain significance
rs118203951	1:11,334,099	T/C	missense variant	pathogenic
rs118203948	1:11,334,112	C/T	missense variant	pathogenic
rs118203946	1:11,334,117	G/C	missense variant	pathogenic
rs184053545	1:11,344,646	C/T	intron variant	—
rs397514669	1:11,345,701	G/A	missense variant	pathogenic
rs118203952	1:11,345,727	G/A	missense variant	pathogenic
rs1638250029	1:11,345,739	A/G	—	uncertain significance
rs773070987	1:11,345,771	G/A	—	uncertain significance
rs139434794	1:11,345,846	C/G	—	benign
rs368780769	1:11,345,850	G/T	—	uncertain significance
rs1638252219	1:11,345,853	A/G	—	uncertain significance
rs118203949	1:11,345,866	A/G	missense variant	pathogenic
rs118203953	1:11,345,879	C/G	missense variant	pathogenic
rs776301691	1:11,345,882	G/T	—	uncertain significance
rs371811409	1:11,345,889	G/A	—	likely pathogenic
rs769458361	1:11,345,892	C/T	—	uncertain significance
rs2523564943	1:11,345,895	G/C	—	uncertain significance
rs1638253298	1:11,345,910	A/G	—	uncertain significance
rs371649705	1:11,345,911	C/T	—	uncertain significance
rs780282620	1:11,345,922	C/A	—	uncertain significance
rs777723270	1:11,345,936	G/A	—	likely benign
rs1006565017	1:11,345,941	C/T	—	uncertain significance
rs201111281	1:11,346,008	C/T	—	benign
rs113307594	1:11,346,038	C/T	—	benign
rs2523566293	1:11,346,162	C/T	—	uncertain significance
rs191663672	1:11,346,206	C/T	—	benign
rs368504935	1:11,346,236	A/G	—	benign
rs535726476	1:11,346,282	G/A	—	uncertain significance
rs11580061	1:11,346,336	A/G	—	benign
rs1399081788	1:11,346,358	T/G	—	uncertain significance
rs1057311020	1:11,346,422	C/T	—	uncertain significance
rs766089759	1:11,346,427	G/A	—	uncertain significance
rs886045070	1:11,346,435	T/C	—	uncertain significance
rs904203949	1:11,346,483	G/A	—	uncertain significance
rs112789142	1:11,346,608	C/T	—	benign
rs112285480	1:11,346,655	G/A	—	benign
rs937500463	1:11,346,707	G/A	—	uncertain significance
rs550736303	1:11,346,719	C/A	—	uncertain significance
rs111991610	1:11,346,740	G/A	—	benign
rs886045071	1:11,346,800	T/C	—	uncertain significance
rs886045072	1:11,346,807	A/G	—	uncertain significance
rs376227906	1:11,346,863	A/G	—	uncertain significance
rs375520410	1:11,346,872	C/A	—	benign
rs752647371	1:11,346,897	C/T	—	uncertain significance
rs75287995	1:11,347,007	G/A	—	benign
rs886045073	1:11,347,035	A/T	—	uncertain significance
rs3765906	1:11,347,092	T/C	—	benign
rs1638286979	1:11,347,178	T/C	—	uncertain significance
rs886045074	1:11,347,185	C/T	—	uncertain significance
rs886045075	1:11,347,198	C/T	—	uncertain significance
rs115210853	1:11,347,248	G/A	—	benign
rs886045076	1:11,347,355	C/T	—	uncertain significance
rs776390306	1:11,347,377	A/G	—	uncertain significance
rs917463872	1:11,347,416	A/G	—	uncertain significance
rs372234308	1:11,347,453	T/A	—	uncertain significance
rs17036631	1:11,347,492	C/T	—	benign
rs886045077	1:11,347,614	C/T	—	uncertain significance
rs886045078	1:11,347,615	T/C	—	uncertain significance
rs886045079	1:11,347,647	T/A	—	uncertain significance
rs868102858	1:11,347,682	A/G	—	uncertain significance
rs886045080	1:11,347,683	T/C	—	uncertain significance
rs896437124	1:11,347,694	T/C	—	uncertain significance
rs77270119	1:11,347,720	C/T	—	benign
rs536904644	1:11,347,723	A/T	—	uncertain significance
rs111893018	1:11,347,752	C/T	—	benign
rs1028565043	1:11,347,753	G/A	—	uncertain significance
rs955630598	1:11,347,758	G/A	—	uncertain significance
rs961079383	1:11,347,768	C/T	—	uncertain significance
rs886045081	1:11,347,774	C/T	—	uncertain significance
rs544393884	1:11,347,859	G/A	—	benign
rs886045082	1:11,347,907	A/G	—	uncertain significance
rs886045083	1:11,347,967	C/T	—	uncertain significance

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.