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rs386834077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834077(A;A)
Make rs386834077(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99275080
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834077
ebirs386834077
HLIrs386834077
Exacrs386834077
Varsomers386834077
Maprs386834077
PheGenIrs386834077
hapmaprs386834077
1000 genomesrs386834077
hgdprs386834077
ensemblrs386834077
gopubmedrs386834077
geneviewrs386834077
scholarrs386834077
googlers386834077
pharmgkbrs386834077
gwascentralrs386834077
openSNPrs386834077
23andMers386834077
23andMe allrs386834077
SNP Nexus

SNPshotrs386834077
SNPdbers386834077
MSV3drs386834077
GWAS Ctlgrs386834077
Max Magnitude0
ClinVar
Risk rs386834077(A;A)
Alt rs386834077(A;A)
Reference rs386834077(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100287308G>A
CLNSRC ClinVar
CLNACC RCV000050066.1,


[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.