rs28929469
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 |
Make rs28929469(C;T) |
Make rs28929469(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 173914795 |
Gene | SERPINC1 |
is a | snp |
is | mentioned by |
dbSNP | rs28929469 |
dbSNP (classic) | rs28929469 |
ClinGen | rs28929469 |
ebi | rs28929469 |
HLI | rs28929469 |
Exac | rs28929469 |
Gnomad | rs28929469 |
Varsome | rs28929469 |
LitVar | rs28929469 |
Map | rs28929469 |
PheGenI | rs28929469 |
Biobank | rs28929469 |
1000 genomes | rs28929469 |
hgdp | rs28929469 |
ensembl | rs28929469 |
geneview | rs28929469 |
scholar | rs28929469 |
rs28929469 | |
pharmgkb | rs28929469 |
gwascentral | rs28929469 |
openSNP | rs28929469 |
23andMe | rs28929469 |
SNPshot | rs28929469 |
SNPdbe | rs28929469 |
MSV3d | rs28929469 |
GWAS Ctlg | rs28929469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28929469(T;T) |
Alt | rs28929469(T;T) |
Reference | Rs28929469(C;C) |
Significance | Pathogenic |
Disease | Antithrombin III deficiency not provided |
Variation | info |
Gene | SERPINC1 |
CLNDBN | Antithrombin III deficiency not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.173883933G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019638.23, RCV000420779.1, |