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rs1060501412

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAGCTTTGT;AGAGCTTTGT) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127818720
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs1060501412
dbSNP (old)rs1060501412
ClinGenrs1060501412
ebirs1060501412
HLIrs1060501412
Exacrs1060501412
Gnomadrs1060501412
Varsomers1060501412
Maprs1060501412
PheGenIrs1060501412
Biobankrs1060501412
1000 genomesrs1060501412
hgdprs1060501412
ensemblrs1060501412
gopubmedrs1060501412
geneviewrs1060501412
scholarrs1060501412
googlers1060501412
pharmgkbrs1060501412
gwascentralrs1060501412
openSNPrs1060501412
23andMers1060501412
23andMe allrs1060501412
SNPshotrs1060501412
SNPdbers1060501412
MSV3drs1060501412
GWAS Ctlgrs1060501412
Max Magnitude0
ClinVar
Risk rs1060501412(-;-)
Alt rs1060501412(-;-)
Reference Rs1060501412(AGAGCTTTGT;AGAGCTTTGT)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG LOC102723566
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130580999_130581008delACAAAGCTCT
CLNSRC
CLNACC RCV000457213.1,