Have questions? Visit https://www.reddit.com/r/SNPedia

rs863223539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 4.3 Hereditary hemorrhagic telangiectasia
(T;T) 0 common in clinvar


Make rs863223539(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127817175
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs863223539
dbSNP (classic)rs863223539
ClinGenrs863223539
ebirs863223539
HLIrs863223539
Exacrs863223539
Gnomadrs863223539
Varsomers863223539
LitVarrs863223539
Maprs863223539
PheGenIrs863223539
Biobankrs863223539
1000 genomesrs863223539
hgdprs863223539
ensemblrs863223539
geneviewrs863223539
scholarrs863223539
googlers863223539
pharmgkbrs863223539
gwascentralrs863223539
openSNPrs863223539
23andMers863223539
SNPshotrs863223539
SNPdbers863223539
MSV3drs863223539
GWAS Ctlgrs863223539
Max Magnitude4.3
ClinVar
Risk rs863223539(A;A)
Alt rs863223539(A;A)
Reference Rs863223539(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene ENG LOC102723566
CLNDBN not provided
Reversed 1
HGVS NC_000009.11:g.130579454A>T
CLNSRC
CLNACC RCV000198174.2,