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rs386834080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834080(C;T)
Make rs386834080(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99442617
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834080
ebirs386834080
HLIrs386834080
Exacrs386834080
Varsomers386834080
Maprs386834080
PheGenIrs386834080
hapmaprs386834080
1000 genomesrs386834080
hgdprs386834080
ensemblrs386834080
gopubmedrs386834080
geneviewrs386834080
scholarrs386834080
googlers386834080
pharmgkbrs386834080
gwascentralrs386834080
openSNPrs386834080
23andMers386834080
23andMe allrs386834080
SNP Nexus

SNPshotrs386834080
SNPdbers386834080
MSV3drs386834080
GWAS Ctlgrs386834080
Max Magnitude0
ClinVar
Risk rs386834080(T;T)
Alt rs386834080(T;T)
Reference rs386834080(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100454845C>T
CLNSRC ClinVar
CLNACC RCV000050071.1,


[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.