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rs267606783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 4
(T;T) 0 common in clinvar


Make rs267606783(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position127854354
GeneENG
is asnp
is mentioned by
dbSNPrs267606783
ebirs267606783
HLIrs267606783
Exacrs267606783
Varsomers267606783
Maprs267606783
PheGenIrs267606783
hapmaprs267606783
1000 genomesrs267606783
hgdprs267606783
ensemblrs267606783
gopubmedrs267606783
geneviewrs267606783
scholarrs267606783
googlers267606783
pharmgkbrs267606783
gwascentralrs267606783
openSNPrs267606783
23andMers267606783
23andMe allrs267606783
SNP Nexus

SNPshotrs267606783
SNPdbers267606783
MSV3drs267606783
GWAS Ctlgrs267606783
Max Magnitude4
ClinVar
Risk rs267606783(C;C)
Alt rs267606783(C;C)
Reference rs267606783(T;T)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130616633A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018153.28,