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rs387906746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906746(C;T)
Make rs387906746(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119916100
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs387906746
ebirs387906746
HLIrs387906746
Exacrs387906746
Varsomers387906746
Maprs387906746
PheGenIrs387906746
hapmaprs387906746
1000 genomesrs387906746
hgdprs387906746
ensemblrs387906746
gopubmedrs387906746
geneviewrs387906746
scholarrs387906746
googlers387906746
pharmgkbrs387906746
gwascentralrs387906746
openSNPrs387906746
23andMers387906746
23andMe allrs387906746
SNP Nexus

SNPshotrs387906746
SNPdbers387906746
MSV3drs387906746
GWAS Ctlgrs387906746
Max Magnitude0
ClinVar
Risk rs387906746(T;T)
Alt rs387906746(T;T)
Reference rs387906746(C;C)
Significance Pathogenic
Disease Hajdu-Cheney syndrome
Variation info
Gene NOTCH2
CLNDBN Hajdu-Cheney syndrome
Reversed 1
HGVS NC_000001.10:g.120458723G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022959.2,