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rs1060501350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501350(A;A)
Make rs1060501350(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position10641688
GeneJAG1
is asnp
is mentioned by
dbSNPrs1060501350
dbSNP (old)rs1060501350
ClinGenrs1060501350
ebirs1060501350
HLIrs1060501350
Exacrs1060501350
Gnomadrs1060501350
Varsomers1060501350
Maprs1060501350
PheGenIrs1060501350
Biobankrs1060501350
1000 genomesrs1060501350
hgdprs1060501350
ensemblrs1060501350
gopubmedrs1060501350
geneviewrs1060501350
scholarrs1060501350
googlers1060501350
pharmgkbrs1060501350
gwascentralrs1060501350
openSNPrs1060501350
23andMers1060501350
23andMe allrs1060501350
SNPshotrs1060501350
SNPdbers1060501350
MSV3drs1060501350
GWAS Ctlgrs1060501350
Max Magnitude0
ClinVar
Risk rs1060501350(A;A)
Alt rs1060501350(A;A)
Reference Rs1060501350(G;G)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10622336C>T
CLNSRC
CLNACC RCV000461685.1,