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

rs755348996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs755348996(A;A)
Make rs755348996(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127843094
GeneENG
is asnp
is mentioned by
dbSNPrs755348996
dbSNP (classic)rs755348996
ClinGenrs755348996
ebirs755348996
HLIrs755348996
Exacrs755348996
Gnomadrs755348996
Varsomers755348996
LitVarrs755348996
Maprs755348996
PheGenIrs755348996
Biobankrs755348996
1000 genomesrs755348996
hgdprs755348996
ensemblrs755348996
geneviewrs755348996
scholarrs755348996
googlers755348996
pharmgkbrs755348996
gwascentralrs755348996
openSNPrs755348996
23andMers755348996
23andMe allrs755348996
SNPshotrs755348996
SNPdbers755348996
MSV3drs755348996
GWAS Ctlgrs755348996
Max Magnitude0
ClinVar
Risk rs755348996(A;A) rs755348996(T;T)
Alt rs755348996(A;A) rs755348996(T;T)
Reference Rs755348996(C;C)
Significance Probable-Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 0
HGVS NC_000009.11:g.130605373C>T
CLNSRC
CLNACC RCV000468087.1,