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rs863223538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223538(A;A)
Make rs863223538(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127818220
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs863223538
dbSNP (classic)rs863223538
ClinGenrs863223538
ebirs863223538
HLIrs863223538
Exacrs863223538
Gnomadrs863223538
Varsomers863223538
LitVarrs863223538
Maprs863223538
PheGenIrs863223538
Biobankrs863223538
1000 genomesrs863223538
hgdprs863223538
ensemblrs863223538
geneviewrs863223538
scholarrs863223538
googlers863223538
pharmgkbrs863223538
gwascentralrs863223538
openSNPrs863223538
23andMers863223538
SNPshotrs863223538
SNPdbers863223538
MSV3drs863223538
GWAS Ctlgrs863223538
Max Magnitude0
ClinVar
Risk rs863223538(A;A)
Alt rs863223538(A;A)
Reference Rs863223538(G;G)
Significance Pathogenic
Disease not provided Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG LOC102723566
CLNDBN not provided Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130580499C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000196652.1, RCV000229345.1,