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rs1060501417

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501417(C;C)
Make rs1060501417(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127829682
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1060501417
dbSNP (old)rs1060501417
ClinGenrs1060501417
ebirs1060501417
HLIrs1060501417
Exacrs1060501417
Gnomadrs1060501417
Varsomers1060501417
Maprs1060501417
PheGenIrs1060501417
Biobankrs1060501417
1000 genomesrs1060501417
hgdprs1060501417
ensemblrs1060501417
gopubmedrs1060501417
geneviewrs1060501417
scholarrs1060501417
googlers1060501417
pharmgkbrs1060501417
gwascentralrs1060501417
openSNPrs1060501417
23andMers1060501417
23andMe allrs1060501417
SNPshotrs1060501417
SNPdbers1060501417
MSV3drs1060501417
GWAS Ctlgrs1060501417
Max Magnitude0
ClinVar
Risk rs1060501417(C;C)
Alt rs1060501417(C;C)
Reference Rs1060501417(G;G)
Significance Probable-Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome not provided
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome not provided
Reversed 1
HGVS NC_000009.11:g.130591961C>G
CLNSRC
CLNACC RCV000477368.1, RCV000485643.1,