Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262793(C;C)
Make rs312262793(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119968224
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262793
ebirs312262793
HLIrs312262793
Exacrs312262793
Varsomers312262793
Maprs312262793
PheGenIrs312262793
hapmaprs312262793
1000 genomesrs312262793
hgdprs312262793
ensemblrs312262793
gopubmedrs312262793
geneviewrs312262793
scholarrs312262793
googlers312262793
pharmgkbrs312262793
gwascentralrs312262793
openSNPrs312262793
23andMers312262793
23andMe allrs312262793
SNP Nexus

SNPshotrs312262793
SNPdbers312262793
MSV3drs312262793
GWAS Ctlgrs312262793
Max Magnitude0
ClinVar
Risk rs312262793(C;C)
Alt rs312262793(C;C)
Reference rs312262793(T;T)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120510847A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034159.2,