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rs387906749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906749(C;T)
Make rs387906749(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position119915557
GeneNOTCH2
is asnp
is mentioned by
dbSNPrs387906749
ebirs387906749
HLIrs387906749
Exacrs387906749
Varsomers387906749
Maprs387906749
PheGenIrs387906749
hapmaprs387906749
1000 genomesrs387906749
hgdprs387906749
ensemblrs387906749
gopubmedrs387906749
geneviewrs387906749
scholarrs387906749
googlers387906749
pharmgkbrs387906749
gwascentralrs387906749
openSNPrs387906749
23andMers387906749
23andMe allrs387906749
SNP Nexus

SNPshotrs387906749
SNPdbers387906749
MSV3drs387906749
GWAS Ctlgrs387906749
Max Magnitude0
ClinVar
Risk rs387906749(T;T)
Alt rs387906749(T;T)
Reference rs387906749(C;C)
Significance Pathogenic
Disease Hajdu-Cheney syndrome
Variation info
Gene NOTCH2
CLNDBN Hajdu-Cheney syndrome
Reversed 1
HGVS NC_000001.10:g.120458180G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022963.2,