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rs1060501414

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501414(A;G)
Make rs1060501414(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127825862
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1060501414
dbSNP (old)rs1060501414
ClinGenrs1060501414
ebirs1060501414
HLIrs1060501414
Exacrs1060501414
Gnomadrs1060501414
Varsomers1060501414
Maprs1060501414
PheGenIrs1060501414
Biobankrs1060501414
1000 genomesrs1060501414
hgdprs1060501414
ensemblrs1060501414
gopubmedrs1060501414
geneviewrs1060501414
scholarrs1060501414
googlers1060501414
pharmgkbrs1060501414
gwascentralrs1060501414
openSNPrs1060501414
23andMers1060501414
23andMe allrs1060501414
SNPshotrs1060501414
SNPdbers1060501414
MSV3drs1060501414
GWAS Ctlgrs1060501414
Max Magnitude0
ClinVar
Risk rs1060501414(G;G)
Alt rs1060501414(G;G)
Reference Rs1060501414(A;A)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130588141T>C
CLNSRC
CLNACC RCV000458484.1,