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rs1060501419

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501419(G;T)
Make rs1060501419(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127824887
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1060501419
dbSNP (old)rs1060501419
ClinGenrs1060501419
ebirs1060501419
HLIrs1060501419
Exacrs1060501419
Gnomadrs1060501419
Varsomers1060501419
Maprs1060501419
PheGenIrs1060501419
Biobankrs1060501419
1000 genomesrs1060501419
hgdprs1060501419
ensemblrs1060501419
gopubmedrs1060501419
geneviewrs1060501419
scholarrs1060501419
googlers1060501419
pharmgkbrs1060501419
gwascentralrs1060501419
openSNPrs1060501419
23andMers1060501419
23andMe allrs1060501419
SNPshotrs1060501419
SNPdbers1060501419
MSV3drs1060501419
GWAS Ctlgrs1060501419
Max Magnitude0
ClinVar
Risk rs1060501419(T;T)
Alt rs1060501419(T;T)
Reference Rs1060501419(G;G)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130587166C>A
CLNSRC
CLNACC RCV000476952.1,