rs121908476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs121908476(C;T) |
Make rs121908476(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 133436865 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs121908476 |
dbSNP (classic) | rs121908476 |
ClinGen | rs121908476 |
ebi | rs121908476 |
HLI | rs121908476 |
Exac | rs121908476 |
Gnomad | rs121908476 |
Varsome | rs121908476 |
LitVar | rs121908476 |
Map | rs121908476 |
PheGenI | rs121908476 |
Biobank | rs121908476 |
1000 genomes | rs121908476 |
hgdp | rs121908476 |
ensembl | rs121908476 |
geneview | rs121908476 |
scholar | rs121908476 |
rs121908476 | |
pharmgkb | rs121908476 |
gwascentral | rs121908476 |
openSNP | rs121908476 |
23andMe | rs121908476 |
SNPshot | rs121908476 |
SNPdbe | rs121908476 |
MSV3d | rs121908476 |
GWAS Ctlg | rs121908476 |
GMAF | 0.00551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908476(T;T) |
Alt | rs121908476(T;T) |
Reference | Rs121908476(C;C) |
Significance | Pathogenic |
Disease | Upshaw-Schulman syndrome |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | Upshaw-Schulman syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136301985C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006167.3, |