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rs121918350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918350(C;T)
Make rs121918350(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10658612
GeneJAG1
is asnp
is mentioned by
dbSNPrs121918350
ebirs121918350
HLIrs121918350
Exacrs121918350
Varsomers121918350
Maprs121918350
PheGenIrs121918350
hapmaprs121918350
1000 genomesrs121918350
hgdprs121918350
ensemblrs121918350
gopubmedrs121918350
geneviewrs121918350
scholarrs121918350
googlers121918350
pharmgkbrs121918350
gwascentralrs121918350
openSNPrs121918350
23andMers121918350
23andMe allrs121918350
SNP Nexus

SNPshotrs121918350
SNPdbers121918350
MSV3drs121918350
GWAS Ctlgrs121918350
Max Magnitude0
OMIM601920
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918350(T;T)
Alt rs121918350(T;T)
Reference rs121918350(C;C)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10639260G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008058.2,