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rs111033632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033632(A;A)
Make rs111033632(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position119967555
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs111033632
ebirs111033632
HLIrs111033632
Exacrs111033632
Varsomers111033632
Maprs111033632
PheGenIrs111033632
hapmaprs111033632
1000 genomesrs111033632
hgdprs111033632
ensemblrs111033632
gopubmedrs111033632
geneviewrs111033632
scholarrs111033632
googlers111033632
pharmgkbrs111033632
gwascentralrs111033632
openSNPrs111033632
23andMers111033632
23andMe allrs111033632
SNP Nexus

SNPshotrs111033632
SNPdbers111033632
MSV3drs111033632
GWAS Ctlgrs111033632
Max Magnitude0
OMIM600275
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033632(A;A)
Alt rs111033632(A;A)
Reference rs111033632(G;G)
Significance Pathogenic
Disease Alagille syndrome 2
Variation info
Gene NOTCH2
CLNDBN Alagille syndrome 2
Reversed 1
HGVS NC_000001.10:g.120510178C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009811.4,