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rs863223543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 4.3 Hereditary hemorrhagic telangiectasia
(T;T) 0 common in clinvar
Make rs863223543(C;C)
Make rs863223543(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127818714
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs863223543
dbSNP (classic)rs863223543
ClinGenrs863223543
ebirs863223543
HLIrs863223543
Exacrs863223543
Gnomadrs863223543
Varsomers863223543
LitVarrs863223543
Maprs863223543
PheGenIrs863223543
Biobankrs863223543
1000 genomesrs863223543
hgdprs863223543
ensemblrs863223543
geneviewrs863223543
scholarrs863223543
googlers863223543
pharmgkbrs863223543
gwascentralrs863223543
openSNPrs863223543
23andMers863223543
SNPshotrs863223543
SNPdbers863223543
MSV3drs863223543
GWAS Ctlgrs863223543
Max Magnitude4.3
ClinVar
Risk rs863223543(C;C)
Alt rs863223543(C;C)
Reference Rs863223543(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene ENG LOC102723566
CLNDBN not provided
Reversed 1
HGVS NC_000009.11:g.130580993A>G
CLNSRC
CLNACC RCV000200447.1,