rs61754010

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3.5	von Willebrand disease
(G;G)	3	Von Willebrand disease, type 2A

Reference

GRCh38 38.1/141

Chromosome

12

Position

6057995

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs61754010
dbSNP (classic)	rs61754010
ClinGen	rs61754010
ebi	rs61754010
HLI	rs61754010
Exac	rs61754010
Gnomad	rs61754010
Varsome	rs61754010
LitVar	rs61754010
Map	rs61754010
PheGenI	rs61754010
Biobank	rs61754010
1000 genomes	rs61754010
hgdp	rs61754010
ensembl	rs61754010
geneview	rs61754010
scholar	rs61754010
google	rs61754010
pharmgkb	rs61754010
gwascentral	rs61754010
openSNP	rs61754010
23andMe	rs61754010
SNPshot	rs61754010
SNPdbe	rs61754010
MSV3d	rs61754010
GWAS Ctlg	rs61754010

Max Magnitude

3.5

rs61754010, also known as c.1583A>G, p.Asn528Ser and N528S, is a SNP in the VWF gene on chromosome 12.

The rare rs61754010(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

ClinVar
Risk	Rs61754010(G;G)
Alt	Rs61754010(G;G)
Reference	Rs61754010(A;A)
Significance	Pathogenic
Disease	Von Willebrand disease not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease, type 2a not provided
Reversed	1
HGVS	NC_000012.11:g.6167161T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000346.3, RCV000086569.1,