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rs312262795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262795(C;T)
Make rs312262795(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119968194
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262795
ebirs312262795
HLIrs312262795
Exacrs312262795
Varsomers312262795
Maprs312262795
PheGenIrs312262795
hapmaprs312262795
1000 genomesrs312262795
hgdprs312262795
ensemblrs312262795
gopubmedrs312262795
geneviewrs312262795
scholarrs312262795
googlers312262795
pharmgkbrs312262795
gwascentralrs312262795
openSNPrs312262795
23andMers312262795
23andMe allrs312262795
SNP Nexus

SNPshotrs312262795
SNPdbers312262795
MSV3drs312262795
GWAS Ctlgrs312262795
Max Magnitude0
ClinVar
Risk rs312262795(T;T)
Alt rs312262795(T;T)
Reference rs312262795(C;C)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120510817G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034160.2,