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rs312262794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262794(C;T)
Make rs312262794(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119968161
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262794
ebirs312262794
HLIrs312262794
Exacrs312262794
Varsomers312262794
Maprs312262794
PheGenIrs312262794
hapmaprs312262794
1000 genomesrs312262794
hgdprs312262794
ensemblrs312262794
gopubmedrs312262794
geneviewrs312262794
scholarrs312262794
googlers312262794
pharmgkbrs312262794
gwascentralrs312262794
openSNPrs312262794
23andMers312262794
23andMe allrs312262794
SNP Nexus

SNPshotrs312262794
SNPdbers312262794
MSV3drs312262794
GWAS Ctlgrs312262794
Max Magnitude0
ClinVar
Risk rs312262794(T;T)
Alt rs312262794(T;T)
Reference rs312262794(C;C)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120510784G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034161.2,