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rs746342893

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746342893(C;T)
Make rs746342893(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136505028
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs746342893
ebirs746342893
HLIrs746342893
Exacrs746342893
Varsomers746342893
Maprs746342893
PheGenIrs746342893
hapmaprs746342893
1000 genomesrs746342893
hgdprs746342893
ensemblrs746342893
gopubmedrs746342893
geneviewrs746342893
scholarrs746342893
googlers746342893
pharmgkbrs746342893
gwascentralrs746342893
openSNPrs746342893
23andMers746342893
23andMe allrs746342893
SNP Nexus

SNPshotrs746342893
SNPdbers746342893
MSV3drs746342893
GWAS Ctlgrs746342893
Max Magnitude0
ClinVar
Risk rs746342893(T;T)
Alt rs746342893(T;T)
Reference rs746342893(C;C)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 0
HGVS NC_000009.11:g.139399480C>A
CLNSRC
CLNACC RCV000206255.1,