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rs730880096

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880096(C;T)
Make rs730880096(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127829788
GeneENG
is asnp
is mentioned by
dbSNPrs730880096
ebirs730880096
HLIrs730880096
Exacrs730880096
Varsomers730880096
Maprs730880096
PheGenIrs730880096
hapmaprs730880096
1000 genomesrs730880096
hgdprs730880096
ensemblrs730880096
gopubmedrs730880096
geneviewrs730880096
scholarrs730880096
googlers730880096
pharmgkbrs730880096
gwascentralrs730880096
openSNPrs730880096
23andMers730880096
23andMe allrs730880096
SNP Nexus

SNPshotrs730880096
SNPdbers730880096
MSV3drs730880096
GWAS Ctlgrs730880096
Max Magnitude0
ClinVar
Risk rs730880096(T;T)
Alt rs730880096(T;T)
Reference rs730880096(C;C)
Significance Probable-Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130592067G>A
CLNSRC
CLNACC RCV000157221.2,