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rs1060501352

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501352(A;A)
Make rs1060501352(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position10641532
GeneJAG1
is asnp
is mentioned by
dbSNPrs1060501352
dbSNP (old)rs1060501352
ClinGenrs1060501352
ebirs1060501352
HLIrs1060501352
Exacrs1060501352
Gnomadrs1060501352
Varsomers1060501352
Maprs1060501352
PheGenIrs1060501352
Biobankrs1060501352
1000 genomesrs1060501352
hgdprs1060501352
ensemblrs1060501352
gopubmedrs1060501352
geneviewrs1060501352
scholarrs1060501352
googlers1060501352
pharmgkbrs1060501352
gwascentralrs1060501352
openSNPrs1060501352
23andMers1060501352
23andMe allrs1060501352
SNPshotrs1060501352
SNPdbers1060501352
MSV3drs1060501352
GWAS Ctlgrs1060501352
Max Magnitude0
ClinVar
Risk rs1060501352(A;A)
Alt rs1060501352(A;A)
Reference Rs1060501352(C;C)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10622180G>T
CLNSRC
CLNACC RCV000470074.1,