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rs387906747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906747(C;T)
Make rs387906747(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119915773
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs387906747
ebirs387906747
HLIrs387906747
Exacrs387906747
Varsomers387906747
Maprs387906747
PheGenIrs387906747
hapmaprs387906747
1000 genomesrs387906747
hgdprs387906747
ensemblrs387906747
gopubmedrs387906747
geneviewrs387906747
scholarrs387906747
googlers387906747
pharmgkbrs387906747
gwascentralrs387906747
openSNPrs387906747
23andMers387906747
23andMe allrs387906747
SNP Nexus

SNPshotrs387906747
SNPdbers387906747
MSV3drs387906747
GWAS Ctlgrs387906747
Max Magnitude0
ClinVar
Risk rs387906747(T;T)
Alt rs387906747(T;T)
Reference rs387906747(C;C)
Significance Pathogenic
Disease Hajdu-Cheney syndrome
Variation info
Gene NOTCH2
CLNDBN Hajdu-Cheney syndrome
Reversed 1
HGVS NC_000001.10:g.120458396G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022961.2,