rs386834101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs386834101(-;-) |
Make rs386834101(-;GA) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99699823 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834101 |
dbSNP (classic) | rs386834101 |
ClinGen | rs386834101 |
ebi | rs386834101 |
HLI | rs386834101 |
Exac | rs386834101 |
Gnomad | rs386834101 |
Varsome | rs386834101 |
LitVar | rs386834101 |
Map | rs386834101 |
PheGenI | rs386834101 |
Biobank | rs386834101 |
1000 genomes | rs386834101 |
hgdp | rs386834101 |
ensembl | rs386834101 |
geneview | rs386834101 |
scholar | rs386834101 |
rs386834101 | |
pharmgkb | rs386834101 |
gwascentral | rs386834101 |
openSNP | rs386834101 |
23andMe | rs386834101 |
SNPshot | rs386834101 |
SNPdbe | rs386834101 |
MSV3d | rs386834101 |
GWAS Ctlg | rs386834101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834101(-;-) |
Alt | rs386834101(-;-) |
Reference | Rs386834101(AG;AG) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100712051_100712052delGA |
CLNSRC | ClinVar |
CLNACC | RCV000050094.1, |
[PMID 12730828] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
[PMID 15141358] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.