rs142572218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs142572218(C;T) |
Make rs142572218(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 133454548 |
Gene | ADAMTS13 |
is a | snp |
is | mentioned by |
dbSNP | rs142572218 |
dbSNP (classic) | rs142572218 |
ClinGen | rs142572218 |
ebi | rs142572218 |
HLI | rs142572218 |
Exac | rs142572218 |
Gnomad | rs142572218 |
Varsome | rs142572218 |
LitVar | rs142572218 |
Map | rs142572218 |
PheGenI | rs142572218 |
Biobank | rs142572218 |
1000 genomes | rs142572218 |
hgdp | rs142572218 |
ensembl | rs142572218 |
geneview | rs142572218 |
scholar | rs142572218 |
rs142572218 | |
pharmgkb | rs142572218 |
gwascentral | rs142572218 |
openSNP | rs142572218 |
23andMe | rs142572218 |
SNPshot | rs142572218 |
SNPdbe | rs142572218 |
MSV3d | rs142572218 |
GWAS Ctlg | rs142572218 |
Max Magnitude | 0 |
[PMID 25934476] Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity
ClinVar | |
---|---|
Risk | rs142572218(A;A) rs142572218(T;T) |
Alt | rs142572218(A;A) rs142572218(T;T) |
Reference | Rs142572218(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | ADAMTS13 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.136319670C>T |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059767.1, |