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rs386834064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834064(-;-)
Make rs386834064(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99870881
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834064
ebirs386834064
HLIrs386834064
Exacrs386834064
Varsomers386834064
Maprs386834064
PheGenIrs386834064
hapmaprs386834064
1000 genomesrs386834064
hgdprs386834064
ensemblrs386834064
gopubmedrs386834064
geneviewrs386834064
scholarrs386834064
googlers386834064
pharmgkbrs386834064
gwascentralrs386834064
openSNPrs386834064
23andMers386834064
23andMe allrs386834064
SNP Nexus

SNPshotrs386834064
SNPdbers386834064
MSV3drs386834064
GWAS Ctlgrs386834064
Max Magnitude0
ClinVar
Risk rs386834064(;)
Alt rs386834064(;)
Reference rs386834064(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883109delA
CLNSRC ClinVar
CLNACC RCV000050051.1,


[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.


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