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rs120074155

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074155(C;C)
Make rs120074155(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99818473
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074155
ebirs120074155
HLIrs120074155
Exacrs120074155
Varsomers120074155
Maprs120074155
PheGenIrs120074155
hapmaprs120074155
1000 genomesrs120074155
hgdprs120074155
ensemblrs120074155
gopubmedrs120074155
geneviewrs120074155
scholarrs120074155
googlers120074155
pharmgkbrs120074155
gwascentralrs120074155
openSNPrs120074155
23andMers120074155
23andMe allrs120074155
SNP Nexus

SNPshotrs120074155
SNPdbers120074155
MSV3drs120074155
GWAS Ctlgrs120074155
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0010
Relatedalso
ClinVar
Risk rs120074155(C;C)
Alt rs120074155(C;C)
Reference rs120074155(T;T)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100830701T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002961.4,