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rs864622058

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622058(A;A)
Make rs864622058(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136517826
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622058
ebirs864622058
HLIrs864622058
Exacrs864622058
Varsomers864622058
Maprs864622058
PheGenIrs864622058
hapmaprs864622058
1000 genomesrs864622058
hgdprs864622058
ensemblrs864622058
gopubmedrs864622058
geneviewrs864622058
scholarrs864622058
googlers864622058
pharmgkbrs864622058
gwascentralrs864622058
openSNPrs864622058
23andMers864622058
23andMe allrs864622058
SNP Nexus

SNPshotrs864622058
SNPdbers864622058
MSV3drs864622058
GWAS Ctlgrs864622058
Max Magnitude0
ClinVar
Risk rs864622058(A;A)
Alt rs864622058(A;A)
Reference rs864622058(G;G)
Significance Probable-Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139412278C>T
CLNSRC
CLNACC RCV000205841.1,