rs786205077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205077(A;A) |
Make rs786205077(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133425613 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs786205077 |
dbSNP (classic) | rs786205077 |
ClinGen | rs786205077 |
ebi | rs786205077 |
HLI | rs786205077 |
Exac | rs786205077 |
Gnomad | rs786205077 |
Varsome | rs786205077 |
LitVar | rs786205077 |
Map | rs786205077 |
PheGenI | rs786205077 |
Biobank | rs786205077 |
1000 genomes | rs786205077 |
hgdp | rs786205077 |
ensembl | rs786205077 |
geneview | rs786205077 |
scholar | rs786205077 |
rs786205077 | |
pharmgkb | rs786205077 |
gwascentral | rs786205077 |
openSNP | rs786205077 |
23andMe | rs786205077 |
SNPshot | rs786205077 |
SNPdbe | rs786205077 |
MSV3d | rs786205077 |
GWAS Ctlg | rs786205077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205077(A;A) |
Alt | rs786205077(A;A) |
Reference | Rs786205077(G;G) |
Significance | Pathogenic |
Disease | Upshaw-Schulman syndrome |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | Upshaw-Schulman syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136290733G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006173.5, |