rs1800386

minus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(A;G)	3	association with Von Willebrand disease type 1
(G;G)	3	association with Von Willebrand disease type 1

Reference

GRCh38 38.1/141

Chromosome

12

Position

6018667

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs1800386
dbSNP (classic)	rs1800386
ClinGen	rs1800386
ebi	rs1800386
HLI	rs1800386
Exac	rs1800386
Gnomad	rs1800386
Varsome	rs1800386
LitVar	rs1800386
Map	rs1800386
PheGenI	rs1800386
Biobank	rs1800386
1000 genomes	rs1800386
hgdp	rs1800386
ensembl	rs1800386
geneview	rs1800386
scholar	rs1800386
google	rs1800386
pharmgkb	rs1800386
gwascentral	rs1800386
openSNP	rs1800386
23andMe	rs1800386
SNPshot	rs1800386
SNPdbe	rs1800386
MSV3d	rs1800386
GWAS Ctlg	rs1800386

GMAF

0.001837

Max Magnitude

3

rs1800386, also known as c.4751A>G, p.Tyr1584Cys and T1584C, is a SNP in the VWF gene on chromosome 12.

The rarer rs1800386(G) allele is considered a "risk factor" for Von Willebrand disease, type 1, according to ClinVar and the VWFdb. This mutation is one of the most common VWF mutations in Caucasians, but it is not (fully) causative and has quite variable expressivity and penetrance. This may be due to associations with blood group type O and increased proteolysis of VWF by ADAMTS13.

This SNP is referred to as i3002455 and i5049282 by 23andMe.

OMIM	613160
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs1800386(G;G)
Alt	Rs1800386(G;G)
Reference	Rs1800386(A;A)
Significance	Other
Disease	Von Willebrand disease not provided not specified
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease, type 1, susceptibility to not provided not specified
Reversed	1
HGVS	NC_000012.11:g.6127833T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000338.3, RCV000086795.1, RCV000486974.1,