rs140353201
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140353201(C;T) |
Make rs140353201(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 99467566 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs140353201 |
dbSNP (classic) | rs140353201 |
ClinGen | rs140353201 |
ebi | rs140353201 |
HLI | rs140353201 |
Exac | rs140353201 |
Gnomad | rs140353201 |
Varsome | rs140353201 |
LitVar | rs140353201 |
Map | rs140353201 |
PheGenI | rs140353201 |
Biobank | rs140353201 |
1000 genomes | rs140353201 |
hgdp | rs140353201 |
ensembl | rs140353201 |
geneview | rs140353201 |
scholar | rs140353201 |
rs140353201 | |
pharmgkb | rs140353201 |
gwascentral | rs140353201 |
openSNP | rs140353201 |
23andMe | rs140353201 |
SNPshot | rs140353201 |
SNPdbe | rs140353201 |
MSV3d | rs140353201 |
GWAS Ctlg | rs140353201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140353201(T;T) |
Alt | rs140353201(T;T) |
Reference | Rs140353201(C;C) |
Significance | Pathogenic |
Disease | not provided Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | not provided Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100479794C>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000081893.3, RCV000176496.1, |