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rs864622059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864622059(-;A)
Make rs864622059(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136516000
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622059
dbSNP (old)rs864622059
ClinGenrs864622059
ebirs864622059
HLIrs864622059
Exacrs864622059
Gnomadrs864622059
Varsomers864622059
Maprs864622059
PheGenIrs864622059
Biobankrs864622059
1000 genomesrs864622059
hgdprs864622059
ensemblrs864622059
gopubmedrs864622059
geneviewrs864622059
scholarrs864622059
googlers864622059
pharmgkbrs864622059
gwascentralrs864622059
openSNPrs864622059
23andMers864622059
23andMe allrs864622059
SNP Nexus

SNPshotrs864622059
SNPdbers864622059
MSV3drs864622059
GWAS Ctlgrs864622059
Max Magnitude0
ClinVar
Risk rs864622059(A;A)
Alt rs864622059(A;A)
Reference Rs864622059(-;-)
Significance Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 1
HGVS NC_000009.11:g.139410453dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000203698.1,