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rs863223532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4.3 Hereditary hemorrhagic telangiectasia
Make rs863223532(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127829800
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs863223532
dbSNP (classic)rs863223532
ClinGenrs863223532
ebirs863223532
HLIrs863223532
Exacrs863223532
Gnomadrs863223532
Varsomers863223532
LitVarrs863223532
Maprs863223532
PheGenIrs863223532
Biobankrs863223532
1000 genomesrs863223532
hgdprs863223532
ensemblrs863223532
geneviewrs863223532
scholarrs863223532
googlers863223532
pharmgkbrs863223532
gwascentralrs863223532
openSNPrs863223532
23andMers863223532
SNPshotrs863223532
SNPdbers863223532
MSV3drs863223532
GWAS Ctlgrs863223532
Max Magnitude4.3
ClinVar
Risk rs863223532(T;T)
Alt rs863223532(T;T)
Reference Rs863223532(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ENG
CLNDBN not provided
Reversed 1
HGVS NC_000009.11:g.130592079G>A
CLNSRC
CLNACC RCV000198121.1,