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rs1060501422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501422(-;-)
Make rs1060501422(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127819973
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs1060501422
dbSNP (old)rs1060501422
ClinGenrs1060501422
ebirs1060501422
HLIrs1060501422
Exacrs1060501422
Gnomadrs1060501422
Varsomers1060501422
Maprs1060501422
PheGenIrs1060501422
Biobankrs1060501422
1000 genomesrs1060501422
hgdprs1060501422
ensemblrs1060501422
gopubmedrs1060501422
geneviewrs1060501422
scholarrs1060501422
googlers1060501422
pharmgkbrs1060501422
gwascentralrs1060501422
openSNPrs1060501422
23andMers1060501422
23andMe allrs1060501422
SNPshotrs1060501422
SNPdbers1060501422
MSV3drs1060501422
GWAS Ctlgrs1060501422
Max Magnitude0
ClinVar
Risk rs1060501422(-;-)
Alt rs1060501422(-;-)
Reference Rs1060501422(G;G)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG LOC102723566
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130582252delC
CLNSRC
CLNACC RCV000463380.1,