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

rs1060501413

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501413(-;-)
Make rs1060501413(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127818817
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs1060501413
dbSNP (old)rs1060501413
ClinGenrs1060501413
ebirs1060501413
HLIrs1060501413
Exacrs1060501413
Gnomadrs1060501413
Varsomers1060501413
Maprs1060501413
PheGenIrs1060501413
Biobankrs1060501413
1000 genomesrs1060501413
hgdprs1060501413
ensemblrs1060501413
gopubmedrs1060501413
geneviewrs1060501413
scholarrs1060501413
googlers1060501413
pharmgkbrs1060501413
gwascentralrs1060501413
openSNPrs1060501413
23andMers1060501413
23andMe allrs1060501413
SNPshotrs1060501413
SNPdbers1060501413
MSV3drs1060501413
GWAS Ctlgrs1060501413
Max Magnitude0
ClinVar
Risk rs1060501413(-;-)
Alt rs1060501413(-;-)
Reference Rs1060501413(C;C)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG LOC102723566
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130581096delG
CLNSRC
CLNACC RCV000466746.1,