VWF

von Willebrand factor

Summary

This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]

Known Variants1,218 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2497343103	12:6,058,183	A/C	—	uncertain significance
rs2497343198	12:6,058,205	G/C	—	uncertain significance
rs267607372	12:6,058,207	A/G	—	uncertain significance
rs267607370	12:6,058,212	C/T	—	not provided
rs267607369	12:6,058,221	G/T	—	not provided
rs2136336158	12:6,058,222	C/T	—	uncertain significance
rs143743709	12:6,058,245	A/G	—	uncertain significance
rs371036946	12:6,058,257	G/C	—	uncertain significance
rs1172733830	12:6,058,278	A/G	—	uncertain significance
rs61751313	12:6,058,282	G/A	—	not provided
rs374314985	12:6,058,287	G/A	—	uncertain significance
rs765927433	12:6,058,288	T/C	—	uncertain significance
rs150577615	12:6,058,290	C/T	—	uncertain significance
rs368634026	12:6,058,291	G/A	—	uncertain significance
rs61751312	12:6,058,296	G/A	—	not provided
rs2497343594	12:6,058,297	G/A	—	uncertain significance
rs138588762	12:6,058,298	A/G	—	likely benign
rs2136336278	12:6,058,300	A/G	—	uncertain significance
rs61751311	12:6,058,305	C/G	—	pathogenic
rs61751310	12:6,058,306	A/G	missense variant	pathogenic
rs61751308	12:6,058,311	C/T	—	not provided
rs61751307	12:6,058,312	A/T	—	not provided
rs1591826730	12:6,058,316	G/T	—	uncertain significance
rs573289245	12:6,058,328	G/A	—	likely benign
rs149309674	12:6,058,334	G/A	—	likely benign
rs1355961536	12:6,058,338	A/G	—	uncertain significance
rs776681874	12:6,058,347	A/G	—	uncertain significance
rs776211115	12:6,058,348	T/C	—	uncertain significance
rs144542595	12:6,058,350	G/A	—	likely benign
rs61751306	12:6,058,361	A/C	—	not provided
rs1943149767	12:6,058,374	A/C	—	uncertain significance
rs2362482	12:6,058,913	G/A	—	benign
rs2362483	12:6,058,920	G/A	—	benign
rs748259003	12:6,058,978	C/T	—	uncertain significance
rs61751305	12:6,058,989	C/T	—	likely pathogenic
rs1591827147	12:6,058,990	A/G	—	uncertain significance
rs2497345304	12:6,058,995	C/T	—	uncertain significance
rs1443181806	12:6,059,010	T/C	—	uncertain significance
rs759147832	12:6,059,030	G/A	—	likely benign
rs2136336917	12:6,059,034	C/T	—	uncertain significance
rs62641244	12:6,059,041	G/C	—	uncertain significance
rs368802960	12:6,059,045	C/T	—	likely benign
rs550925582	12:6,059,055	G/A	—	uncertain significance
rs7953373	12:6,059,565	G/A	regulatory region variant	—
rs2270151	12:6,060,960	G/A	—	benign
rs886049735	12:6,061,002	G/A	—	uncertain significance
rs1223422347	12:6,061,004	A/G	—	conflicting classifications of pathogenicity
rs61751304	12:6,061,007	C/G	—	likely pathogenic
rs1943194455	12:6,061,009	C/A	—	likely pathogenic
rs1565806592	12:6,061,010	A/G	—	uncertain significance
rs2497349746	12:6,061,022	A/T	—	uncertain significance
rs766672651	12:6,061,036	T/C	—	uncertain significance
rs2270152	12:6,061,069	T/G	—	benign
rs7962217	12:6,061,559	C/T	missense variant	likely benign
rs886049736	12:6,061,576	T/C	—	uncertain significance
rs144030544	12:6,061,578	T/C	—	likely benign
rs774529699	12:6,061,585	A/G	—	uncertain significance
rs76459136	12:6,061,588	G/C	—	uncertain significance
rs41276732	12:6,061,593	G/A	—	likely benign
rs62641243	12:6,061,594	C/T	—	not provided
rs1565806829	12:6,061,620	G/T	—	likely pathogenic
rs538486039	12:6,061,627	C/T	—	uncertain significance
rs151129435	12:6,061,636	T/C	—	uncertain significance
rs2497351730	12:6,061,645	C/A	—	likely pathogenic
rs61751303	12:6,061,660	C/T	—	likely pathogenic
rs746890802	12:6,061,664	C/T	—	uncertain significance
rs78353028	12:6,061,675	G/A	—	likely benign
rs149834874	12:6,061,684	C/G	—	conflicting classifications of pathogenicity
rs370662678	12:6,061,685	G/A	—	conflicting classifications of pathogenicity
rs375747195	12:6,061,698	A/G	—	likely benign
rs2497354800	12:6,062,678	T/G	—	uncertain significance
rs748907832	12:6,062,701	G/A	—	uncertain significance
rs61751302	12:6,062,708	G/A	—	conflicting classifications of pathogenicity
rs12297370	12:6,062,777	A/G	—	likely benign
rs55687637	12:6,076,640	G/A	—	conflicting classifications of pathogenicity
rs113814258	12:6,076,650	A/T	—	conflicting classifications of pathogenicity
rs371948517	12:6,076,690	G/T	—	uncertain significance
rs760515060	12:6,076,729	G/A	—	uncertain significance
rs200209213	12:6,076,739	G/A	—	conflicting classifications of pathogenicity
rs886049737	12:6,076,749	A/T	—	uncertain significance
rs886038359	12:6,076,757	A/T	—	likely benign
rs142316324	12:6,076,765	C/T	—	uncertain significance
rs189370859	12:6,076,778	G/A	—	likely benign
rs11063962	12:6,076,781	G/A	—	likely benign
rs216851	12:6,076,941	A/G	—	benign
rs368470281	12:6,077,280	G/T	—	uncertain significance
rs200770256	12:6,077,292	C/A	—	pathogenic
rs2497387275	12:6,077,304	T/A	—	uncertain significance
rs369970893	12:6,077,331	G/A	—	conflicting classifications of pathogenicity
rs267607366	12:6,077,334	C/G	—	likely pathogenic
rs372396117	12:6,077,336	G/C	—	conflicting classifications of pathogenicity
rs71581030	12:6,077,337	G/C	—	uncertain significance
rs573460498	12:6,077,510	C/A	—	likely benign
rs4764478	12:6,078,125	T/A	intron variant	—
rs775123891	12:6,078,369	T/C	—	uncertain significance
rs61751301	12:6,078,370	G/A	—	likely pathogenic
rs918057829	12:6,078,372	C/T	—	uncertain significance
rs373321657	12:6,078,382	C/T	—	uncertain significance
rs1258347142	12:6,078,394	C/T	—	uncertain significance
rs143235468	12:6,078,399	C/T	—	likely benign

Showing 100 of 1,218 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.