SLFN14

schlafen family member 14

Summary

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

Known Variants106 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs8073060	17:33,875,262	T/A	—	benign
rs148469524	17:33,875,273	C/T	—	likely benign
rs9907259	17:33,875,284	A/G	—	benign
rs1555547134	17:33,875,305	C/G	—	uncertain significance
rs2072550081	17:33,875,311	A/G	—	uncertain significance
rs1418650340	17:33,875,372	G/A	—	likely benign
rs925257287	17:33,875,437	C/T	—	uncertain significance
rs375612069	17:33,875,445	G/A	—	uncertain significance
rs150974695	17:33,875,525	G/T	—	conflicting classifications of pathogenicity
rs906771060	17:33,875,542	A/G	—	uncertain significance
rs564352461	17:33,875,578	G/T	—	uncertain significance
rs78364481	17:33,875,688	T/A	—	likely benign
rs1216791801	17:33,875,706	A/G	—	uncertain significance
rs1441598590	17:33,875,736	G/A	—	uncertain significance
rs548942825	17:33,875,781	G/A	—	uncertain significance
rs372213109	17:33,875,790	A/G	—	uncertain significance
rs1283901877	17:33,875,810	G/C	—	benign
rs565511248	17:33,875,823	C/T	—	uncertain significance
rs202215190	17:33,875,851	G/A	—	uncertain significance
rs1260599917	17:33,875,923	C/T	—	uncertain significance
rs187022223	17:33,875,952	G/A	—	uncertain significance
rs376832252	17:33,876,011	A/G	—	likely benign
rs1195748437	17:33,876,033	T/G	—	uncertain significance
rs1001441	17:33,876,083	G/A	—	benign
rs9906105	17:33,878,833	C/T	—	—
rs552439070	17:33,879,748	C/A	—	uncertain significance
rs762787287	17:33,879,749	G/A	—	uncertain significance
rs73992855	17:33,879,781	A/G	—	likely benign
rs1259424677	17:33,879,800	G/T	—	uncertain significance
rs2509132929	17:33,879,813	A/G	—	uncertain significance
rs73992856	17:33,879,814	C/T	—	benign
rs2509133029	17:33,879,854	G/C	—	uncertain significance
rs568286589	17:33,879,870	G/A	—	uncertain significance
rs1036320102	17:33,879,894	G/A	—	uncertain significance
rs374441031	17:33,879,935	A/G	—	uncertain significance
rs28498569	17:33,880,003	C/G	—	benign
rs147826084	17:33,880,070	C/T	—	likely benign
rs556021028	17:33,880,094	C/T	—	uncertain significance
rs2072613042	17:33,880,172	T/C	—	uncertain significance
rs192498365	17:33,880,197	G/A	—	conflicting classifications of pathogenicity
rs879704702	17:33,880,226	G/C	—	uncertain significance
rs369307237	17:33,880,257	G/A	—	uncertain significance
rs2509133974	17:33,880,266	C/T	—	uncertain significance
rs2509133989	17:33,880,271	A/T	—	uncertain significance
rs2509134020	17:33,880,281	C/T	—	uncertain significance
rs753345092	17:33,880,295	T/C	—	conflicting classifications of pathogenicity
rs572233110	17:33,880,297	C/A	—	uncertain significance
rs79007502	17:33,880,305	T/C	—	benign
rs190500366	17:33,880,376	G/T	—	conflicting classifications of pathogenicity
rs919934942	17:33,880,458	G/T	—	conflicting classifications of pathogenicity
rs184394938	17:33,880,461	T/C	—	uncertain significance
rs1481881857	17:33,880,463	A/C	—	uncertain significance
rs563158300	17:33,880,473	C/T	—	benign
rs321607	17:33,880,584	A/G	—	benign
rs321608	17:33,880,636	G/A	—	benign
rs321609	17:33,880,676	G/T	—	benign
rs321610	17:33,880,894	T/A	—	—
rs321611	17:33,881,453	G/T	—	benign
rs321612	17:33,881,631	T/C	—	benign
rs2072631681	17:33,881,641	T/C	—	uncertain significance
rs370160814	17:33,881,658	T/A	—	uncertain significance
rs989179732	17:33,881,676	C/T	—	uncertain significance
rs321613	17:33,881,718	G/A	—	benign
rs321614	17:33,881,734	G/A	—	benign
rs2977	17:33,881,907	C/G	—	benign
rs868799658	17:33,884,034	C/G	—	uncertain significance
rs1052775415	17:33,884,057	T/C	—	uncertain significance
rs373686913	17:33,884,070	G/A	—	uncertain significance
rs147396945	17:33,884,124	C/T	missense variant	—
rs373500415	17:33,884,166	C/G	—	uncertain significance
rs1036148354	17:33,884,175	C/G	—	uncertain significance
rs750933604	17:33,884,221	C/T	—	likely benign
rs2072659987	17:33,884,223	T/C	—	uncertain significance
rs919643845	17:33,884,298	C/T	—	uncertain significance
rs1390267753	17:33,884,307	A/G	—	likely benign
rs1428689204	17:33,884,312	C/T	—	uncertain significance
rs2509143193	17:33,884,340	C/T	—	uncertain significance
rs954048710	17:33,884,388	C/A	—	uncertain significance
rs757188030	17:33,884,415	G/A	missense variant	pathogenic
rs869320714	17:33,884,423	A/T	missense variant	pathogenic
rs869320715	17:33,884,425	T/A	missense variant	pathogenic
rs869320716	17:33,884,430	T/C	missense variant	pathogenic
rs2072663284	17:33,884,439	A/G	—	uncertain significance
rs758428017	17:33,884,471	A/T	—	uncertain significance
rs934418058	17:33,884,494	G/A	—	likely benign
rs2072664088	17:33,884,508	T/A	—	uncertain significance
rs946177653	17:33,884,534	A/C	—	uncertain significance
rs1422767120	17:33,884,543	T/C	—	uncertain significance
rs1159665352	17:33,884,554	G/C	—	uncertain significance
rs139678049	17:33,884,567	A/G	—	likely benign
rs768191104	17:33,884,586	T/A	—	uncertain significance
rs201410402	17:33,884,597	G/T	—	uncertain significance
rs189281314	17:33,884,656	A/C	—	likely benign
rs199663871	17:33,884,688	G/A	—	likely benign
rs1160846325	17:33,884,696	T/C	—	uncertain significance
rs899211648	17:33,884,702	C/T	—	uncertain significance
rs538967367	17:33,884,703	G/T	—	uncertain significance
rs145261252	17:33,884,722	T/C	—	likely benign
rs755942726	17:33,884,775	G/T	—	uncertain significance
rs10512472	17:33,884,804	T/C	missense variant	benign

Showing 100 of 106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.