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rs386834079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834079(A;G)
Make rs386834079(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99096310
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834079
ebirs386834079
HLIrs386834079
Exacrs386834079
Varsomers386834079
Maprs386834079
PheGenIrs386834079
hapmaprs386834079
1000 genomesrs386834079
hgdprs386834079
ensemblrs386834079
gopubmedrs386834079
geneviewrs386834079
scholarrs386834079
googlers386834079
pharmgkbrs386834079
gwascentralrs386834079
openSNPrs386834079
23andMers386834079
23andMe allrs386834079
SNP Nexus

SNPshotrs386834079
SNPdbers386834079
MSV3drs386834079
GWAS Ctlgrs386834079
Max Magnitude0
ClinVar
Risk rs386834079(G;G)
Alt rs386834079(G;G)
Reference rs386834079(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100108538A>G
CLNSRC ClinVar
CLNACC RCV000050069.1,


[PMID 20461111OA-icon.png] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.