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rs312262796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262796(C;T)
Make rs312262796(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119918478
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262796
ebirs312262796
HLIrs312262796
Exacrs312262796
Varsomers312262796
Maprs312262796
PheGenIrs312262796
hapmaprs312262796
1000 genomesrs312262796
hgdprs312262796
ensemblrs312262796
gopubmedrs312262796
geneviewrs312262796
scholarrs312262796
googlers312262796
pharmgkbrs312262796
gwascentralrs312262796
openSNPrs312262796
23andMers312262796
23andMe allrs312262796
SNP Nexus

SNPshotrs312262796
SNPdbers312262796
MSV3drs312262796
GWAS Ctlgrs312262796
Max Magnitude0
ClinVar
Risk rs312262796(T;T)
Alt rs312262796(T;T)
Reference rs312262796(C;C)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120461101G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034164.2,