rs1057516807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTA;GTA) | 0 | common in clinvar |
Make rs1057516807(-;-) |
Make rs1057516807(-;AGT) |
Make rs1057516807(AGT;AGT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 99823830 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs1057516807 |
dbSNP (old) | rs1057516807 |
ClinGen | rs1057516807 |
ebi | rs1057516807 |
HLI | rs1057516807 |
Exac | rs1057516807 |
Gnomad | rs1057516807 |
Varsome | rs1057516807 |
Map | rs1057516807 |
PheGenI | rs1057516807 |
Biobank | rs1057516807 |
1000 genomes | rs1057516807 |
hgdp | rs1057516807 |
ensembl | rs1057516807 |
gopubmed | rs1057516807 |
geneview | rs1057516807 |
scholar | rs1057516807 |
rs1057516807 | |
pharmgkb | rs1057516807 |
gwascentral | rs1057516807 |
openSNP | rs1057516807 |
23andMe | rs1057516807 |
23andMe all | rs1057516807 |
SNPshot | rs1057516807 |
SNPdbe | rs1057516807 |
MSV3d | rs1057516807 |
GWAS Ctlg | rs1057516807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516807(-;-) |
Alt | rs1057516807(-;-) |
Reference | Rs1057516807(GTA;GTA) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100836058_100836060delAGT |
CLNSRC | |
CLNACC | RCV000411468.1, |