rs387906345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTCACCAGGAGGACACAGAGCGCTATGT;GCTCACCAGGAGGACACAGAGCGCTATGT) | 0 | common in clinvar |
(GGAGGACACAGAGCGCTATGTGCTCACCA;GGAGGACACAGAGCGCTATGTGCTCACCA) | 0 | common in clinvar |
Make rs387906345(-;-) |
Make rs387906345(-;GGAGGACACAGAGCGCTATGTGCTCACCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 133424439 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs387906345 |
dbSNP (classic) | rs387906345 |
ClinGen | rs387906345 |
ebi | rs387906345 |
HLI | rs387906345 |
Exac | rs387906345 |
Gnomad | rs387906345 |
Varsome | rs387906345 |
LitVar | rs387906345 |
Map | rs387906345 |
PheGenI | rs387906345 |
Biobank | rs387906345 |
1000 genomes | rs387906345 |
hgdp | rs387906345 |
ensembl | rs387906345 |
geneview | rs387906345 |
scholar | rs387906345 |
rs387906345 | |
pharmgkb | rs387906345 |
gwascentral | rs387906345 |
openSNP | rs387906345 |
23andMe | rs387906345 |
SNPshot | rs387906345 |
SNPdbe | rs387906345 |
MSV3d | rs387906345 |
GWAS Ctlg | rs387906345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906345(-;-) |
Alt | rs387906345(-;-) |
Reference | Rs387906345(GCTCACCAGGAGGACACAGAGCGCTATGT;GCTCACCAGGAGGACACAGAGCGCTATGT) |
Significance | Pathogenic |
Disease | Upshaw-Schulman syndrome |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | Upshaw-Schulman syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136289559_136289587del29 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006176.3, |