rs121909552
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909552(A;A) |
Make rs121909552(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 173914725 |
Gene | SERPINC1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909552 |
dbSNP (classic) | rs121909552 |
ClinGen | rs121909552 |
ebi | rs121909552 |
HLI | rs121909552 |
Exac | rs121909552 |
Gnomad | rs121909552 |
Varsome | rs121909552 |
LitVar | rs121909552 |
Map | rs121909552 |
PheGenI | rs121909552 |
Biobank | rs121909552 |
1000 genomes | rs121909552 |
hgdp | rs121909552 |
ensembl | rs121909552 |
geneview | rs121909552 |
scholar | rs121909552 |
rs121909552 | |
pharmgkb | rs121909552 |
gwascentral | rs121909552 |
openSNP | rs121909552 |
23andMe | rs121909552 |
SNPshot | rs121909552 |
SNPdbe | rs121909552 |
MSV3d | rs121909552 |
GWAS Ctlg | rs121909552 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909552(A;A) |
Alt | rs121909552(A;A) |
Reference | Rs121909552(G;G) |
Significance | Pathogenic |
Disease | Antithrombin III deficiency Antithrombin deficiency |
Variation | info |
Gene | SERPINC1 |
CLNDBN | Antithrombin III deficiency Antithrombin deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.173883863C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019630.25, RCV000148881.1, |