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rs80338909

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome9
Position27212710
GeneTEK
is asnp
is mentioned by
dbSNPrs80338909
ebirs80338909
HLIrs80338909
Exacrs80338909
Varsomers80338909
Maprs80338909
PheGenIrs80338909
hapmaprs80338909
1000 genomesrs80338909
hgdprs80338909
ensemblrs80338909
gopubmedrs80338909
geneviewrs80338909
scholarrs80338909
googlers80338909
pharmgkbrs80338909
gwascentralrs80338909
openSNPrs80338909
23andMers80338909
23andMe allrs80338909
SNP Nexus

SNPshotrs80338909
SNPdbers80338909
MSV3drs80338909
GWAS Ctlgrs80338909
Max Magnitude5

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.

OMIM600221
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338909(C,G;C,G)
Alt rs80338909(C,G;C,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
CLNACC RCV000009877.1, 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