rs387906342
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCTGTGGCGCTGGAAACCTGCAACC;AGCTGTGGCGCTGGAAACCTGCAACC) | 0 | common in clinvar |
(CCAGCTGTGGCGCTGGAAACCTGCAA;CCAGCTGTGGCGCTGGAAACCTGCAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs387906342(-;-) |
Make rs387906342(-;AGCTGTGGCGCTGGAAACCTGCAACC) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 133443517 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs387906342 |
dbSNP (classic) | rs387906342 |
ClinGen | rs387906342 |
ebi | rs387906342 |
HLI | rs387906342 |
Exac | rs387906342 |
Gnomad | rs387906342 |
Varsome | rs387906342 |
LitVar | rs387906342 |
Map | rs387906342 |
PheGenI | rs387906342 |
Biobank | rs387906342 |
1000 genomes | rs387906342 |
hgdp | rs387906342 |
ensembl | rs387906342 |
geneview | rs387906342 |
scholar | rs387906342 |
rs387906342 | |
pharmgkb | rs387906342 |
gwascentral | rs387906342 |
openSNP | rs387906342 |
23andMe | rs387906342 |
SNPshot | rs387906342 |
SNPdbe | rs387906342 |
MSV3d | rs387906342 |
GWAS Ctlg | rs387906342 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906342(-;-) |
Alt | rs387906342(-;-) |
Reference | Rs387906342(CCAGCTGTGGCGCTGGAAACCTGCAA;CCAGCTGTGGCGCTGGAAACCTGCAA) |
Significance | Pathogenic |
Disease | Upshaw-Schulman syndrome |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | Upshaw-Schulman syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136308638_136308663del26 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006162.4, |