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rs121918351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918351(A;A)
Make rs121918351(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10658611
GeneJAG1
is asnp
is mentioned by
dbSNPrs121918351
ebirs121918351
HLIrs121918351
Exacrs121918351
Varsomers121918351
Maprs121918351
PheGenIrs121918351
hapmaprs121918351
1000 genomesrs121918351
hgdprs121918351
ensemblrs121918351
gopubmedrs121918351
geneviewrs121918351
scholarrs121918351
googlers121918351
pharmgkbrs121918351
gwascentralrs121918351
openSNPrs121918351
23andMers121918351
23andMe allrs121918351
SNP Nexus

SNPshotrs121918351
SNPdbers121918351
MSV3drs121918351
GWAS Ctlgrs121918351
Max Magnitude0
OMIM601920
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918351(A;A)
Alt rs121918351(A;A)
Reference rs121918351(G;G)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10639259C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008059.2,