rs773094891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs773094891(A;A) |
Make rs773094891(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 99875510 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs773094891 |
dbSNP (classic) | rs773094891 |
ClinGen | rs773094891 |
ebi | rs773094891 |
HLI | rs773094891 |
Exac | rs773094891 |
Gnomad | rs773094891 |
Varsome | rs773094891 |
LitVar | rs773094891 |
Map | rs773094891 |
PheGenI | rs773094891 |
Biobank | rs773094891 |
1000 genomes | rs773094891 |
hgdp | rs773094891 |
ensembl | rs773094891 |
geneview | rs773094891 |
scholar | rs773094891 |
rs773094891 | |
pharmgkb | rs773094891 |
gwascentral | rs773094891 |
openSNP | rs773094891 |
23andMe | rs773094891 |
SNPshot | rs773094891 |
SNPdbe | rs773094891 |
MSV3d | rs773094891 |
GWAS Ctlg | rs773094891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773094891(A;A) rs773094891(C;C) |
Alt | rs773094891(A;A) rs773094891(C;C) |
Reference | Rs773094891(T;T) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100887738T>A |
CLNSRC | |
CLNACC | RCV000412032.1, |