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rs864622056

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622056(A;A)
Make rs864622056(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136517850
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622056
ebirs864622056
HLIrs864622056
Exacrs864622056
Varsomers864622056
Maprs864622056
PheGenIrs864622056
hapmaprs864622056
1000 genomesrs864622056
hgdprs864622056
ensemblrs864622056
gopubmedrs864622056
geneviewrs864622056
scholarrs864622056
googlers864622056
pharmgkbrs864622056
gwascentralrs864622056
openSNPrs864622056
23andMers864622056
23andMe allrs864622056
SNP Nexus

SNPshotrs864622056
SNPdbers864622056
MSV3drs864622056
GWAS Ctlgrs864622056
Max Magnitude0
ClinVar
Risk rs864622056(A;A)
Alt rs864622056(A;A)
Reference rs864622056(G;G)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139412302C>T
CLNSRC
CLNACC RCV000203986.1,