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rs312262800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs312262800(-;-)
Make rs312262800(-;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position119949039
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs312262800
ebirs312262800
HLIrs312262800
Exacrs312262800
Varsomers312262800
Maprs312262800
PheGenIrs312262800
hapmaprs312262800
1000 genomesrs312262800
hgdprs312262800
ensemblrs312262800
gopubmedrs312262800
geneviewrs312262800
scholarrs312262800
googlers312262800
pharmgkbrs312262800
gwascentralrs312262800
openSNPrs312262800
23andMers312262800
23andMe allrs312262800
SNP Nexus

SNPshotrs312262800
SNPdbers312262800
MSV3drs312262800
GWAS Ctlgrs312262800
Max Magnitude0
ClinVar
Risk rs312262800(;)
Alt rs312262800(;)
Reference rs312262800(AG;AG)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120491662_120491663delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034163.2,