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rs312262801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262801(C;T)
Make rs312262801(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119917685
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262801
ebirs312262801
HLIrs312262801
Exacrs312262801
Varsomers312262801
Maprs312262801
PheGenIrs312262801
hapmaprs312262801
1000 genomesrs312262801
hgdprs312262801
ensemblrs312262801
gopubmedrs312262801
geneviewrs312262801
scholarrs312262801
googlers312262801
pharmgkbrs312262801
gwascentralrs312262801
openSNPrs312262801
23andMers312262801
23andMe allrs312262801
SNP Nexus

SNPshotrs312262801
SNPdbers312262801
MSV3drs312262801
GWAS Ctlgrs312262801
Max Magnitude0
ClinVar
Risk rs312262801(G,T;G,T)
Alt rs312262801(G,T;G,T)
Reference rs312262801(C;C)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120460308G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034167.2,