rs387906745

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	tendency for multiple cutaneous and mucosal venous malformations
(G;G)	0	common in clinvar

Make rs387906745(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

27212764

Gene

TEK

is a	snp
is	mentioned by
dbSNP	rs387906745
dbSNP (classic)	rs387906745
ClinGen	rs387906745
ebi	rs387906745
HLI	rs387906745
Exac	rs387906745
Gnomad	rs387906745
Varsome	rs387906745
LitVar	rs387906745
Map	rs387906745
PheGenI	rs387906745
Biobank	rs387906745
1000 genomes	rs387906745
hgdp	rs387906745
ensembl	rs387906745
geneview	rs387906745
scholar	rs387906745
google	rs387906745
pharmgkb	rs387906745
gwascentral	rs387906745
openSNP	rs387906745
23andMe	rs387906745
SNPshot	rs387906745
SNPdbe	rs387906745
MSV3d	rs387906745
GWAS Ctlg	rs387906745

Max Magnitude

5

rs387906745, also known as c.2744G>A, Arg915His and R915H, represents a mutation in the TEK gene on chromosome 9.

The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations.

ClinVar
Risk	rs387906745(A;A)
Alt	rs387906745(A;A)
Reference	Rs387906745(G;G)
Significance	Pathogenic
Disease	Multiple Cutaneous and Mucosal Venous Malformations
Variation	info
Gene	TEK
CLNDBN	Multiple Cutaneous and Mucosal Venous Malformations
Reversed	0
HGVS	NC_000009.11:g.27212762G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022956.4,