Rs120074149

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074149(G;G)
Make rs120074149(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99717219
GeneVPS13B
is asnp
is mentioned by
dbSNPrs120074149
PheGenIrs120074149
nextbiors120074149
hapmaprs120074149
1000 genomesrs120074149
hgdprs120074149
ensemblrs120074149
gopubmedrs120074149
geneviewrs120074149
scholarrs120074149
googlers120074149
pharmgkbrs120074149
gwascentralrs120074149
openSNPrs120074149
23andMers120074149
23andMe allrs120074149
SNP Nexus

SNPshotrs120074149
SNPdbers120074149
MSV3drs120074149
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0002
Relatedalso
ClinVar
Risk rs120074149(G;G)
Alt rs120074149(G;G)
Reference rs120074149(T;T)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100729447T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002953.1,