rs140936527
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140936527(A;A) |
Make rs140936527(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 99274273 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs140936527 |
dbSNP (classic) | rs140936527 |
ClinGen | rs140936527 |
ebi | rs140936527 |
HLI | rs140936527 |
Exac | rs140936527 |
Gnomad | rs140936527 |
Varsome | rs140936527 |
LitVar | rs140936527 |
Map | rs140936527 |
PheGenI | rs140936527 |
Biobank | rs140936527 |
1000 genomes | rs140936527 |
hgdp | rs140936527 |
ensembl | rs140936527 |
geneview | rs140936527 |
scholar | rs140936527 |
rs140936527 | |
pharmgkb | rs140936527 |
gwascentral | rs140936527 |
openSNP | rs140936527 |
23andMe | rs140936527 |
SNPshot | rs140936527 |
SNPdbe | rs140936527 |
MSV3d | rs140936527 |
GWAS Ctlg | rs140936527 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140936527(A;A) |
Alt | rs140936527(A;A) |
Reference | Rs140936527(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.100286501C>A |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000081887.3, RCV000175340.1, |