Rs120074150

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074150(C;T)
Make rs120074150(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99720973
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074150
PheGenIrs120074150
nextbiors120074150
hapmaprs120074150
1000 genomesrs120074150
hgdprs120074150
ensemblrs120074150
gopubmedrs120074150
geneviewrs120074150
scholarrs120074150
googlers120074150
pharmgkbrs120074150
gwascentralrs120074150
openSNPrs120074150
23andMers120074150
23andMe allrs120074150
SNP Nexus

SNPshotrs120074150
SNPdbers120074150
MSV3drs120074150
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0003
Relatedalso
ClinVar
Risk rs120074150(T;T)
Alt rs120074150(T;T)
Reference rs120074150(C;C)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100733201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002954.1,