rs386834098
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TA;TA) | 0 | common in clinvar |
Make rs386834098(-;-) |
Make rs386834098(-;AT) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99642324 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834098 |
dbSNP (classic) | rs386834098 |
ClinGen | rs386834098 |
ebi | rs386834098 |
HLI | rs386834098 |
Exac | rs386834098 |
Gnomad | rs386834098 |
Varsome | rs386834098 |
LitVar | rs386834098 |
Map | rs386834098 |
PheGenI | rs386834098 |
Biobank | rs386834098 |
1000 genomes | rs386834098 |
hgdp | rs386834098 |
ensembl | rs386834098 |
geneview | rs386834098 |
scholar | rs386834098 |
rs386834098 | |
pharmgkb | rs386834098 |
gwascentral | rs386834098 |
openSNP | rs386834098 |
23andMe | rs386834098 |
SNPshot | rs386834098 |
SNPdbe | rs386834098 |
MSV3d | rs386834098 |
GWAS Ctlg | rs386834098 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834098(-;-) Rs386834098(TA;TA) |
Alt | rs386834098(-;-) Rs386834098(TA;TA) |
Reference | Rs386834098(AT;AT) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100654552_100654553delAT |
CLNSRC | ClinVar |
CLNACC | RCV000050091.2, |
[PMID 15691367] COH1 analysis and linkage study in two Japanese families with Cohen syndrome.