rs1060499780
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499780(-;-) |
Make rs1060499780(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 133455576 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499780 |
dbSNP (classic) | rs1060499780 |
ClinGen | rs1060499780 |
ebi | rs1060499780 |
HLI | rs1060499780 |
Exac | rs1060499780 |
Gnomad | rs1060499780 |
Varsome | rs1060499780 |
LitVar | rs1060499780 |
Map | rs1060499780 |
PheGenI | rs1060499780 |
Biobank | rs1060499780 |
1000 genomes | rs1060499780 |
hgdp | rs1060499780 |
ensembl | rs1060499780 |
geneview | rs1060499780 |
scholar | rs1060499780 |
rs1060499780 | |
pharmgkb | rs1060499780 |
gwascentral | rs1060499780 |
openSNP | rs1060499780 |
23andMe | rs1060499780 |
SNPshot | rs1060499780 |
SNPdbe | rs1060499780 |
MSV3d | rs1060499780 |
GWAS Ctlg | rs1060499780 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499780(-;-) |
Alt | rs1060499780(-;-) |
Reference | Rs1060499780(G;G) |
Significance | Probable-Pathogenic |
Disease | Upshaw-Schulman syndrome |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | Upshaw-Schulman syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136320698delG |
CLNSRC | |
CLNACC | RCV000454327.1, |