rs121918479
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918479(C;T) |
Make rs121918479(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 46728138 |
Gene | F2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918479 |
dbSNP (classic) | rs121918479 |
ClinGen | rs121918479 |
ebi | rs121918479 |
HLI | rs121918479 |
Exac | rs121918479 |
Gnomad | rs121918479 |
Varsome | rs121918479 |
LitVar | rs121918479 |
Map | rs121918479 |
PheGenI | rs121918479 |
Biobank | rs121918479 |
1000 genomes | rs121918479 |
hgdp | rs121918479 |
ensembl | rs121918479 |
geneview | rs121918479 |
scholar | rs121918479 |
rs121918479 | |
pharmgkb | rs121918479 |
gwascentral | rs121918479 |
openSNP | rs121918479 |
23andMe | rs121918479 |
SNPshot | rs121918479 |
SNPdbe | rs121918479 |
MSV3d | rs121918479 |
GWAS Ctlg | rs121918479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918479(T;T) |
Alt | rs121918479(T;T) |
Reference | Rs121918479(C;C) |
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.46749688C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014232.25, |