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rs1060501351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501351(A;A)
Make rs1060501351(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position10658619
GeneJAG1
is asnp
is mentioned by
dbSNPrs1060501351
dbSNP (old)rs1060501351
ClinGenrs1060501351
ebirs1060501351
HLIrs1060501351
Exacrs1060501351
Gnomadrs1060501351
Varsomers1060501351
LitVarrs1060501351
Maprs1060501351
PheGenIrs1060501351
Biobankrs1060501351
1000 genomesrs1060501351
hgdprs1060501351
ensemblrs1060501351
gopubmedrs1060501351
geneviewrs1060501351
scholarrs1060501351
googlers1060501351
pharmgkbrs1060501351
gwascentralrs1060501351
openSNPrs1060501351
23andMers1060501351
23andMe allrs1060501351
SNPshotrs1060501351
SNPdbers1060501351
MSV3drs1060501351
GWAS Ctlgrs1060501351
Max Magnitude0
ClinVar
Risk rs1060501351(A;A)
Alt rs1060501351(A;A)
Reference Rs1060501351(T;T)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10639267A>T
CLNSRC
CLNACC RCV000476270.1,