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

rs312262799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262799(C;C)
Make rs312262799(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119967448
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262799
ebirs312262799
HLIrs312262799
Exacrs312262799
Varsomers312262799
Maprs312262799
PheGenIrs312262799
hapmaprs312262799
1000 genomesrs312262799
hgdprs312262799
ensemblrs312262799
gopubmedrs312262799
geneviewrs312262799
scholarrs312262799
googlers312262799
pharmgkbrs312262799
gwascentralrs312262799
openSNPrs312262799
23andMers312262799
23andMe allrs312262799
SNP Nexus

SNPshotrs312262799
SNPdbers312262799
MSV3drs312262799
GWAS Ctlgrs312262799
Max Magnitude0
ClinVar
Risk rs312262799(C;C)
Alt rs312262799(C;C)
Reference rs312262799(T;T)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120510071A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034162.2,