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rs312262798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262798(A;A)
Make rs312262798(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119917763
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262798
ebirs312262798
HLIrs312262798
Exacrs312262798
Varsomers312262798
Maprs312262798
PheGenIrs312262798
hapmaprs312262798
1000 genomesrs312262798
hgdprs312262798
ensemblrs312262798
gopubmedrs312262798
geneviewrs312262798
scholarrs312262798
googlers312262798
pharmgkbrs312262798
gwascentralrs312262798
openSNPrs312262798
23andMers312262798
23andMe allrs312262798
SNP Nexus

SNPshotrs312262798
SNPdbers312262798
MSV3drs312262798
GWAS Ctlgrs312262798
Max Magnitude0
ClinVar
Risk rs312262798(A;A)
Alt rs312262798(A;A)
Reference rs312262798(G;G)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120460386C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009810.2,