rs80338909

plus

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

Make rs80338909(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

27212710

Gene

TEK

is a	snp
is	mentioned by
dbSNP	rs80338909
dbSNP (classic)	rs80338909
ClinGen	rs80338909
ebi	rs80338909
HLI	rs80338909
Exac	rs80338909
Gnomad	rs80338909
Varsome	rs80338909
LitVar	rs80338909
Map	rs80338909
PheGenI	rs80338909
Biobank	rs80338909
1000 genomes	rs80338909
hgdp	rs80338909
ensembl	rs80338909
geneview	rs80338909
scholar	rs80338909
google	rs80338909
pharmgkb	rs80338909
gwascentral	rs80338909
openSNP	rs80338909
23andMe	rs80338909
SNPshot	rs80338909
SNPdbe	rs80338909
MSV3d	rs80338909
GWAS Ctlg	rs80338909

Max Magnitude

5

rs80338909, also known as c.2690A>G, p.Tyr897Cys and Y897C, as well as c.2690A>C, Tyr897Ser and Y897S, represents a mutation in the TEK gene on chromosome 9.

Both the rare (G) and (C) minor alleles for this SNP are reported to cause Multiple cutaneous and mucosal venous malformations.

OMIM	600221
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338909(C;C) rs80338909(G;G)
Alt	rs80338909(C;C) rs80338909(G;G)
Reference	Rs80338909(A;A)
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.27212708A>C; NC_000009.11:g.27212708A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009877.2, RCV000022955.2,

[PMID 10369874] Allelic and locus heterogeneity in inherited venous malformations.

[PMID 23566851] Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations