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rs312262797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262797(A;A)
Make rs312262797(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119918477
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262797
ebirs312262797
HLIrs312262797
Exacrs312262797
Varsomers312262797
Maprs312262797
PheGenIrs312262797
hapmaprs312262797
1000 genomesrs312262797
hgdprs312262797
ensemblrs312262797
gopubmedrs312262797
geneviewrs312262797
scholarrs312262797
googlers312262797
pharmgkbrs312262797
gwascentralrs312262797
openSNPrs312262797
23andMers312262797
23andMe allrs312262797
SNP Nexus

SNPshotrs312262797
SNPdbers312262797
MSV3drs312262797
GWAS Ctlgrs312262797
Max Magnitude0
ClinVar
Risk rs312262797(A;A)
Alt rs312262797(A;A)
Reference rs312262797(G;G)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120461100C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034165.2,