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rs386834076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs386834076(A;A)
Make rs386834076(A;CC)
ReferenceGRCh38 38.1/141
Chromosome8
Position99013810
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834076
ebirs386834076
HLIrs386834076
Exacrs386834076
Varsomers386834076
Maprs386834076
PheGenIrs386834076
hapmaprs386834076
1000 genomesrs386834076
hgdprs386834076
ensemblrs386834076
gopubmedrs386834076
geneviewrs386834076
scholarrs386834076
googlers386834076
pharmgkbrs386834076
gwascentralrs386834076
openSNPrs386834076
23andMers386834076
23andMe allrs386834076
SNP Nexus

SNPshotrs386834076
SNPdbers386834076
MSV3drs386834076
GWAS Ctlgrs386834076
Max Magnitude0
ClinVar
Risk rs386834076(A;A)
Alt rs386834076(A;A)
Reference rs386834076(CC;CC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100026038_100026039delCCinsA
CLNSRC ClinVar
CLNACC RCV000050065.1,


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