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rs121918352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918352(C;C)
Make rs121918352(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10672978
GeneJAG1
is asnp
is mentioned by
dbSNPrs121918352
ebirs121918352
HLIrs121918352
Exacrs121918352
Varsomers121918352
Maprs121918352
PheGenIrs121918352
hapmaprs121918352
1000 genomesrs121918352
hgdprs121918352
ensemblrs121918352
gopubmedrs121918352
geneviewrs121918352
scholarrs121918352
googlers121918352
pharmgkbrs121918352
gwascentralrs121918352
openSNPrs121918352
23andMers121918352
23andMe allrs121918352
SNP Nexus

SNPshotrs121918352
SNPdbers121918352
MSV3drs121918352
GWAS Ctlgrs121918352
Max Magnitude0
OMIM601920
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918352(C;C)
Alt rs121918352(C;C)
Reference rs121918352(T;T)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10653626A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008064.2,