rs121918481
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 2 | Increased risk of dysprothrombinemia. Prothrombin Himi 1. |
(T;T) | 0.1 | Normal. Not prothrombin Himi 1. |
Make rs121918481(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 46728004 |
Gene | F2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918481 |
dbSNP (classic) | rs121918481 |
ClinGen | rs121918481 |
ebi | rs121918481 |
HLI | rs121918481 |
Exac | rs121918481 |
Gnomad | rs121918481 |
Varsome | rs121918481 |
LitVar | rs121918481 |
Map | rs121918481 |
PheGenI | rs121918481 |
Biobank | rs121918481 |
1000 genomes | rs121918481 |
hgdp | rs121918481 |
ensembl | rs121918481 |
geneview | rs121918481 |
scholar | rs121918481 |
rs121918481 | |
pharmgkb | rs121918481 |
gwascentral | rs121918481 |
openSNP | rs121918481 |
23andMe | rs121918481 |
SNPshot | rs121918481 |
SNPdbe | rs121918481 |
MSV3d | rs121918481 |
GWAS Ctlg | rs121918481 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | Rs121918481(C;C) |
Alt | Rs121918481(C;C) |
Reference | Rs121918481(T;T) |
Significance | Pathogenic |
Disease | Hereditary factor II deficiency disease |
Variation | info |
Gene | F2 |
CLNDBN | Hereditary factor II deficiency disease |
Reversed | 0 |
HGVS | NC_000011.9:g.46749554T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014234.17, |