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Rs120074153

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074153(A;A)
Make rs120074153(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99784394
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074153
PheGenIrs120074153
nextbiors120074153
hapmaprs120074153
1000 genomesrs120074153
hgdprs120074153
ensemblrs120074153
gopubmedrs120074153
geneviewrs120074153
scholarrs120074153
googlers120074153
pharmgkbrs120074153
gwascentralrs120074153
openSNPrs120074153
23andMers120074153
23andMe allrs120074153
SNP Nexus

SNPshotrs120074153
SNPdbers120074153
MSV3drs120074153
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0007
Relatedalso
ClinVar
Risk rs120074153(A;A)
Alt rs120074153(A;A)
Reference rs120074153(G;G)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100796622G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002958.1,