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rs864622061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864622061(-;T)
Make rs864622061(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136504951
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622061
dbSNP (old)rs864622061
ClinGenrs864622061
ebirs864622061
HLIrs864622061
Exacrs864622061
Gnomadrs864622061
Varsomers864622061
Maprs864622061
PheGenIrs864622061
Biobankrs864622061
1000 genomesrs864622061
hgdprs864622061
ensemblrs864622061
gopubmedrs864622061
geneviewrs864622061
scholarrs864622061
googlers864622061
pharmgkbrs864622061
gwascentralrs864622061
openSNPrs864622061
23andMers864622061
23andMe allrs864622061
SNP Nexus

SNPshotrs864622061
SNPdbers864622061
MSV3drs864622061
GWAS Ctlgrs864622061
Max Magnitude0
ClinVar
Risk rs864622061(T;T)
Alt rs864622061(T;T)
Reference Rs864622061(-;-)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139399404dupA
CLNSRC
CLNACC RCV000204161.1,