rs386834055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs386834055(-;A) |
Make rs386834055(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99853470 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834055 |
dbSNP (classic) | rs386834055 |
ClinGen | rs386834055 |
ebi | rs386834055 |
HLI | rs386834055 |
Exac | rs386834055 |
Gnomad | rs386834055 |
Varsome | rs386834055 |
LitVar | rs386834055 |
Map | rs386834055 |
PheGenI | rs386834055 |
Biobank | rs386834055 |
1000 genomes | rs386834055 |
hgdp | rs386834055 |
ensembl | rs386834055 |
geneview | rs386834055 |
scholar | rs386834055 |
rs386834055 | |
pharmgkb | rs386834055 |
gwascentral | rs386834055 |
openSNP | rs386834055 |
23andMe | rs386834055 |
SNPshot | rs386834055 |
SNPdbe | rs386834055 |
MSV3d | rs386834055 |
GWAS Ctlg | rs386834055 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834055(A;A) |
Alt | rs386834055(A;A) |
Reference | Rs386834055(-;-) |
Significance | Other |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100865698dupA |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000050042.3, |
[PMID 22855652] Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.