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rs386834073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834073(A;G)
Make rs386834073(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99147839
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834073
ebirs386834073
HLIrs386834073
Exacrs386834073
Varsomers386834073
Maprs386834073
PheGenIrs386834073
hapmaprs386834073
1000 genomesrs386834073
hgdprs386834073
ensemblrs386834073
gopubmedrs386834073
geneviewrs386834073
scholarrs386834073
googlers386834073
pharmgkbrs386834073
gwascentralrs386834073
openSNPrs386834073
23andMers386834073
23andMe allrs386834073
SNP Nexus

SNPshotrs386834073
SNPdbers386834073
MSV3drs386834073
GWAS Ctlgrs386834073
Max Magnitude0
ClinVar
Risk rs386834073(G;G)
Alt rs386834073(G;G)
Reference rs386834073(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100160067A>G
CLNSRC ClinVar
CLNACC RCV000050061.1,


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