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rs386834078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834078(A;A)
Make rs386834078(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99384272
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834078
ebirs386834078
HLIrs386834078
Exacrs386834078
Varsomers386834078
Maprs386834078
PheGenIrs386834078
hapmaprs386834078
1000 genomesrs386834078
hgdprs386834078
ensemblrs386834078
gopubmedrs386834078
geneviewrs386834078
scholarrs386834078
googlers386834078
pharmgkbrs386834078
gwascentralrs386834078
openSNPrs386834078
23andMers386834078
23andMe allrs386834078
SNP Nexus

SNPshotrs386834078
SNPdbers386834078
MSV3drs386834078
GWAS Ctlgrs386834078
Max Magnitude0
ClinVar
Risk rs386834078(A;A)
Alt rs386834078(A;A)
Reference rs386834078(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100396500G>A
CLNSRC ClinVar
CLNACC RCV000050068.2,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.