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rs120074154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074154(C;T)
Make rs120074154(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99854202
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074154
ebirs120074154
HLIrs120074154
Exacrs120074154
Varsomers120074154
Maprs120074154
PheGenIrs120074154
hapmaprs120074154
1000 genomesrs120074154
hgdprs120074154
ensemblrs120074154
gopubmedrs120074154
geneviewrs120074154
scholarrs120074154
googlers120074154
pharmgkbrs120074154
gwascentralrs120074154
openSNPrs120074154
23andMers120074154
23andMe allrs120074154
SNP Nexus

SNPshotrs120074154
SNPdbers120074154
MSV3drs120074154
GWAS Ctlgrs120074154
Max Magnitude0
OMIM607817
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074154(T;T)
Alt rs120074154(T;T)
Reference rs120074154(C;C)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100866430C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002959.3,