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rs387906748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906748(G;T)
Make rs387906748(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119915827
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs387906748
ebirs387906748
HLIrs387906748
Exacrs387906748
Varsomers387906748
Maprs387906748
PheGenIrs387906748
hapmaprs387906748
1000 genomesrs387906748
hgdprs387906748
ensemblrs387906748
gopubmedrs387906748
geneviewrs387906748
scholarrs387906748
googlers387906748
pharmgkbrs387906748
gwascentralrs387906748
openSNPrs387906748
23andMers387906748
23andMe allrs387906748
SNP Nexus

SNPshotrs387906748
SNPdbers387906748
MSV3drs387906748
GWAS Ctlgrs387906748
Max Magnitude0
ClinVar
Risk rs387906748(T;T)
Alt rs387906748(T;T)
Reference rs387906748(G;G)
Significance Pathogenic
Disease Hajdu-Cheney syndrome
Variation info
Gene NOTCH2
CLNDBN Hajdu-Cheney syndrome
Reversed 1
HGVS NC_000001.10:g.120458450C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022962.2,