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rs864622057

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864622057(C;C)
Make rs864622057(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136517848
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622057
ebirs864622057
HLIrs864622057
Exacrs864622057
Varsomers864622057
Maprs864622057
PheGenIrs864622057
hapmaprs864622057
1000 genomesrs864622057
hgdprs864622057
ensemblrs864622057
gopubmedrs864622057
geneviewrs864622057
scholarrs864622057
googlers864622057
pharmgkbrs864622057
gwascentralrs864622057
openSNPrs864622057
23andMers864622057
23andMe allrs864622057
SNP Nexus

SNPshotrs864622057
SNPdbers864622057
MSV3drs864622057
GWAS Ctlgrs864622057
Max Magnitude0
ClinVar
Risk rs864622057(C;C)
Alt rs864622057(C;C)
Reference rs864622057(T;T)
Significance Probable-Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139412300A>G
CLNSRC
CLNACC RCV000205123.1,