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rs527236046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236046(A;G)
Make rs527236046(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position10648607
GeneJAG1
is asnp
is mentioned by
dbSNPrs527236046
ebirs527236046
HLIrs527236046
Exacrs527236046
Varsomers527236046
Maprs527236046
PheGenIrs527236046
hapmaprs527236046
1000 genomesrs527236046
hgdprs527236046
ensemblrs527236046
gopubmedrs527236046
geneviewrs527236046
scholarrs527236046
googlers527236046
pharmgkbrs527236046
gwascentralrs527236046
openSNPrs527236046
23andMers527236046
23andMe allrs527236046
SNP Nexus

SNPshotrs527236046
SNPdbers527236046
MSV3drs527236046
GWAS Ctlgrs527236046
Max Magnitude0
ClinVar
Risk rs527236046(G;G)
Alt rs527236046(G;G)
Reference rs527236046(A;A)
Significance Probable-Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10629255T>C
CLNSRC ClinVar
CLNACC RCV000132568.1,