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rs1060501408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501408(C;T)
Make rs1060501408(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127854482
GeneENG
is asnp
is mentioned by
dbSNPrs1060501408
dbSNP (old)rs1060501408
ClinGenrs1060501408
ebirs1060501408
HLIrs1060501408
Exacrs1060501408
Gnomadrs1060501408
Varsomers1060501408
Maprs1060501408
PheGenIrs1060501408
Biobankrs1060501408
1000 genomesrs1060501408
hgdprs1060501408
ensemblrs1060501408
gopubmedrs1060501408
geneviewrs1060501408
scholarrs1060501408
googlers1060501408
pharmgkbrs1060501408
gwascentralrs1060501408
openSNPrs1060501408
23andMers1060501408
23andMe allrs1060501408
SNPshotrs1060501408
SNPdbers1060501408
MSV3drs1060501408
GWAS Ctlgrs1060501408
Max Magnitude0
ClinVar
Risk rs1060501408(T;T)
Alt rs1060501408(T;T)
Reference Rs1060501408(C;C)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130616761G>A
CLNSRC
CLNACC RCV000463117.1,