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rs1060501410

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501410(A;A)
Make rs1060501410(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127824800
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1060501410
dbSNP (old)rs1060501410
ClinGenrs1060501410
ebirs1060501410
HLIrs1060501410
Exacrs1060501410
Gnomadrs1060501410
Varsomers1060501410
Maprs1060501410
PheGenIrs1060501410
Biobankrs1060501410
1000 genomesrs1060501410
hgdprs1060501410
ensemblrs1060501410
gopubmedrs1060501410
geneviewrs1060501410
scholarrs1060501410
googlers1060501410
pharmgkbrs1060501410
gwascentralrs1060501410
openSNPrs1060501410
23andMers1060501410
23andMe allrs1060501410
SNPshotrs1060501410
SNPdbers1060501410
MSV3drs1060501410
GWAS Ctlgrs1060501410
Max Magnitude0
ClinVar
Risk rs1060501410(A;A)
Alt rs1060501410(A;A)
Reference Rs1060501410(G;G)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130587079C>T
CLNSRC
CLNACC RCV000462769.1,