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rs120074152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074152(C;T)
Make rs120074152(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99384294
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074152
ebirs120074152
HLIrs120074152
Exacrs120074152
Varsomers120074152
Maprs120074152
PheGenIrs120074152
hapmaprs120074152
1000 genomesrs120074152
hgdprs120074152
ensemblrs120074152
gopubmedrs120074152
geneviewrs120074152
scholarrs120074152
googlers120074152
pharmgkbrs120074152
gwascentralrs120074152
openSNPrs120074152
23andMers120074152
23andMe allrs120074152
SNP Nexus

SNPshotrs120074152
SNPdbers120074152
MSV3drs120074152
GWAS Ctlgrs120074152
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0006
Relatedalso
ClinVar
Risk rs120074152(T;T)
Alt rs120074152(T;T)
Reference rs120074152(C;C)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100396522C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002957.3,