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rs1060501418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501418(A;G)
Make rs1060501418(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127854355
GeneENG
is asnp
is mentioned by
dbSNPrs1060501418
dbSNP (old)rs1060501418
ClinGenrs1060501418
ebirs1060501418
HLIrs1060501418
Exacrs1060501418
Gnomadrs1060501418
Varsomers1060501418
Maprs1060501418
PheGenIrs1060501418
Biobankrs1060501418
1000 genomesrs1060501418
hgdprs1060501418
ensemblrs1060501418
gopubmedrs1060501418
geneviewrs1060501418
scholarrs1060501418
googlers1060501418
pharmgkbrs1060501418
gwascentralrs1060501418
openSNPrs1060501418
23andMers1060501418
23andMe allrs1060501418
SNPshotrs1060501418
SNPdbers1060501418
MSV3drs1060501418
GWAS Ctlgrs1060501418
Max Magnitude0
ClinVar
Risk rs1060501418(G;G)
Alt rs1060501418(G;G)
Reference Rs1060501418(A;A)
Significance Probable-Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130616634T>C
CLNSRC
CLNACC RCV000469330.1,