Rs120074151

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074151(G;T)
Make rs120074151(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511275
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074151
Exacrs120074151
PheGenIrs120074151
nextbiors120074151
hapmaprs120074151
1000 genomesrs120074151
hgdprs120074151
ensemblrs120074151
gopubmedrs120074151
geneviewrs120074151
scholarrs120074151
googlers120074151
pharmgkbrs120074151
gwascentralrs120074151
openSNPrs120074151
23andMers120074151
23andMe allrs120074151
SNP Nexus

SNPshotrs120074151
SNPdbers120074151
MSV3drs120074151
OMIM607817
DescCohen Syndrome
Variant0005
Relatedalso
ClinVar
Risk rs120074151(T;T)
Alt rs120074151(T;T)
Reference rs120074151(G;G)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523503G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002956.1,