rs386834064
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386834064(-;-) |
Make rs386834064(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99870881 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834064 |
dbSNP (classic) | rs386834064 |
ClinGen | rs386834064 |
ebi | rs386834064 |
HLI | rs386834064 |
Exac | rs386834064 |
Gnomad | rs386834064 |
Varsome | rs386834064 |
LitVar | rs386834064 |
Map | rs386834064 |
PheGenI | rs386834064 |
Biobank | rs386834064 |
1000 genomes | rs386834064 |
hgdp | rs386834064 |
ensembl | rs386834064 |
geneview | rs386834064 |
scholar | rs386834064 |
rs386834064 | |
pharmgkb | rs386834064 |
gwascentral | rs386834064 |
openSNP | rs386834064 |
23andMe | rs386834064 |
SNPshot | rs386834064 |
SNPdbe | rs386834064 |
MSV3d | rs386834064 |
GWAS Ctlg | rs386834064 |
Max Magnitude | 0 |
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 20461111] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.