rs16984852
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs16984852(G;T) |
Make rs16984852(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 23049655 |
Gene | THBD |
is a | snp |
is | mentioned by |
dbSNP | rs16984852 |
dbSNP (classic) | rs16984852 |
ClinGen | rs16984852 |
ebi | rs16984852 |
HLI | rs16984852 |
Exac | rs16984852 |
Gnomad | rs16984852 |
Varsome | rs16984852 |
LitVar | rs16984852 |
Map | rs16984852 |
PheGenI | rs16984852 |
Biobank | rs16984852 |
1000 genomes | rs16984852 |
hgdp | rs16984852 |
ensembl | rs16984852 |
geneview | rs16984852 |
scholar | rs16984852 |
rs16984852 | |
pharmgkb | rs16984852 |
gwascentral | rs16984852 |
openSNP | rs16984852 |
23andMe | rs16984852 |
SNPshot | rs16984852 |
SNPdbe | rs16984852 |
MSV3d | rs16984852 |
GWAS Ctlg | rs16984852 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs16984852(T;T) |
Alt | rs16984852(T;T) |
Reference | Rs16984852(G;G) |
Significance | Pathogenic |
Disease | Thrombophilia due to thrombomodulin defect |
Variation | info |
Gene | THBD |
CLNDBN | Thrombophilia due to thrombomodulin defect |
Reversed | 1 |
HGVS | NC_000020.10:g.23030292C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128419.3, |