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rs682632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs682632(G;T)
Make rs682632(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position27183465
GeneTEK
is asnp
is mentioned by
dbSNPrs682632
ebirs682632
HLIrs682632
Exacrs682632
Varsomers682632
Maprs682632
PheGenIrs682632
hapmaprs682632
1000 genomesrs682632
hgdprs682632
ensemblrs682632
gopubmedrs682632
geneviewrs682632
scholarrs682632
googlers682632
pharmgkbrs682632
gwascentralrs682632
openSNPrs682632
23andMers682632
23andMe allrs682632
SNP Nexus

SNPshotrs682632
SNPdbers682632
MSV3drs682632
GWAS Ctlgrs682632
GMAF0.01607
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene TEK
allele C
frequency 0.967
sift TOLERATED
HuRef 1103652056586
Disease Association Defects in TEK are a cause of dominantly inherited venous malformations (VMCM) (MIM:600195); an error of vascular morphogenesis characterized by dilated, serpiginous channels.



GET Evidence
TEK-Q346P
aa_change Gln346Pro
aa_change_short Q346P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.97295
summary