SVEP1

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Summary

Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants228 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1327533	9:113,131,163	T/G	downstream gene variant	—
rs200899704	9:113,132,270	C/T	—	uncertain significance
rs774876976	9:113,137,710	C/T	—	uncertain significance
rs555132455	9:113,137,717	C/T	—	uncertain significance
rs180788725	9:113,137,727	G/A	—	likely benign
rs748725191	9:113,139,604	C/T	—	uncertain significance
rs2491572538	9:113,139,606	T/G	—	uncertain significance
rs914954533	9:113,141,657	C/T	—	uncertain significance
rs201801228	9:113,141,665	A/G	—	uncertain significance
rs72762683	9:113,142,798	A/C	—	—
rs767551252	9:113,148,190	C/T	—	uncertain significance
rs1247461363	9:113,148,234	C/A	—	uncertain significance
rs778752618	9:113,148,291	T/A	—	uncertain significance
rs370352992	9:113,148,323	G/A	—	likely benign
rs2491587935	9:113,149,586	G/C	—	uncertain significance
rs372409135	9:113,149,637	T/C	—	uncertain significance
rs2491588188	9:113,149,648	T/A	—	uncertain significance
rs201866666	9:113,149,678	G/A	—	uncertain significance
rs1002063921	9:113,149,690	A/G	—	uncertain significance
rs368850323	9:113,149,705	T/C	—	uncertain significance
rs189261603	9:113,151,837	T/C	—	likely benign
rs550607864	9:113,151,854	C/T	—	uncertain significance
rs750996379	9:113,151,855	G/A	—	uncertain significance
rs10759426	9:113,153,647	T/C	intron variant	—
rs199960015	9:113,163,202	C/T	—	uncertain significance
rs200910564	9:113,163,238	A/C	—	conflicting classifications of pathogenicity
rs189569362	9:113,163,285	T/A	—	uncertain significance
rs267602083	9:113,166,687	C/T	—	uncertain significance
rs2491620959	9:113,166,756	T/C	—	uncertain significance
rs752542830	9:113,166,815	G/A	—	likely benign
rs7048505	9:113,167,372	A/G	intron variant	—
rs6477768	9:113,168,239	A/G	intron variant	—
rs1242609556	9:113,168,471	C/A	—	uncertain significance
rs200661347	9:113,168,590	T/C	—	uncertain significance
rs993160597	9:113,168,645	T/C	—	likely benign
rs779622829	9:113,168,669	G/A	—	uncertain significance
rs199868284	9:113,168,695	G/A	—	uncertain significance
rs758748207	9:113,168,767	A/C	—	uncertain significance
rs372503996	9:113,168,822	T/C	—	uncertain significance
rs761921014	9:113,168,845	A/G	—	uncertain significance
rs202217766	9:113,168,905	T/A	—	uncertain significance
rs771823091	9:113,168,932	C/T	—	uncertain significance
rs376495943	9:113,169,125	C/T	—	uncertain significance
rs760135789	9:113,169,127	T/C	—	uncertain significance
rs199967982	9:113,169,175	G/A	—	likely benign
rs376299052	9:113,169,338	C/T	—	uncertain significance
rs771298916	9:113,169,567	T/G	—	uncertain significance
rs2491626689	9:113,169,580	G/A	—	uncertain significance
rs2491626923	9:113,169,683	T/C	—	uncertain significance
rs760884605	9:113,169,840	C/T	—	uncertain significance
rs778842410	9:113,169,877	G/A	—	uncertain significance
rs2491627340	9:113,169,884	C/G	—	uncertain significance
rs182878465	9:113,169,896	C/T	—	uncertain significance
rs749172396	9:113,169,898	C/A	—	uncertain significance
rs1240322105	9:113,169,931	G/A	—	uncertain significance
rs374237607	9:113,169,965	C/T	—	uncertain significance
rs41278437	9:113,170,060	G/A	—	uncertain significance
rs2491627804	9:113,170,082	C/G	—	uncertain significance
rs760398508	9:113,170,231	G/A	—	uncertain significance
rs750364304	9:113,170,270	G/A	—	uncertain significance
rs143931457	9:113,170,289	C/T	—	likely benign
rs746395068	9:113,170,303	C/T	—	uncertain significance
rs548482419	9:113,170,322	C/T	—	likely benign
rs768103159	9:113,170,529	T/G	—	uncertain significance
rs2491628765	9:113,170,548	C/T	—	likely benign
rs1004184975	9:113,170,593	G/C	—	uncertain significance
rs778322026	9:113,170,672	G/T	—	uncertain significance
rs2491629053	9:113,170,680	A/C	—	uncertain significance
rs200635865	9:113,170,700	G/A	—	conflicting classifications of pathogenicity
rs372300684	9:113,170,750	T/C	—	uncertain significance
rs546056831	9:113,170,783	G/T	—	uncertain significance
rs969947086	9:113,170,787	G/A	—	uncertain significance
rs2491629436	9:113,170,834	C/A	—	uncertain significance
rs200717973	9:113,170,920	A/C	—	likely benign
rs1041689987	9:113,170,933	G/A	—	uncertain significance
rs201910574	9:113,171,002	C/T	—	uncertain significance
rs773833242	9:113,171,065	T/C	—	uncertain significance
rs201290499	9:113,171,074	G/A	—	uncertain significance
rs774054177	9:113,171,081	G/T	—	uncertain significance
rs753766016	9:113,171,099	G/T	—	uncertain significance
rs535494842	9:113,171,114	G/A	—	uncertain significance
rs769977699	9:113,171,137	T/C	—	uncertain significance
rs1827999994	9:113,171,160	A/C	—	uncertain significance
rs552783679	9:113,171,182	G/A	—	uncertain significance
rs61259796	9:113,172,295	T/A	—	—
rs762718706	9:113,173,344	T/A	—	uncertain significance
rs769404169	9:113,173,389	G/A	—	uncertain significance
rs779348403	9:113,173,391	G/C	—	uncertain significance
rs199648565	9:113,173,455	T/C	—	uncertain significance
rs755319723	9:113,173,459	T/C	—	uncertain significance
rs2491633377	9:113,173,467	C/T	—	uncertain significance
rs1454416948	9:113,173,495	C/G	—	uncertain significance
rs138943441	9:113,173,530	T/C	—	uncertain significance
rs375954172	9:113,173,543	G/C	—	uncertain significance
rs79128366	9:113,173,547	C/T	—	likely benign
rs201043549	9:113,173,558	G/A	—	uncertain significance
rs755338025	9:113,173,579	A/G	—	uncertain significance
rs1158485396	9:113,173,632	G/A	—	uncertain significance
rs1417203969	9:113,173,672	C/G	—	uncertain significance
rs753133131	9:113,173,777	C/T	—	uncertain significance

Showing 100 of 228 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.