rs752907087
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier of factor XI mutation |
(T;T) | 5 | Factor XI deficiency |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 186276317 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs752907087 |
dbSNP (classic) | rs752907087 |
ClinGen | rs752907087 |
ebi | rs752907087 |
HLI | rs752907087 |
Exac | rs752907087 |
Gnomad | rs752907087 |
Varsome | rs752907087 |
LitVar | rs752907087 |
Map | rs752907087 |
PheGenI | rs752907087 |
Biobank | rs752907087 |
1000 genomes | rs752907087 |
hgdp | rs752907087 |
ensembl | rs752907087 |
geneview | rs752907087 |
scholar | rs752907087 |
rs752907087 | |
pharmgkb | rs752907087 |
gwascentral | rs752907087 |
openSNP | rs752907087 |
23andMe | rs752907087 |
SNPshot | rs752907087 |
SNPdbe | rs752907087 |
MSV3d | rs752907087 |
GWAS Ctlg | rs752907087 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs752907087(T;T) |
Alt | Rs752907087(T;T) |
Reference | Rs752907087(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary factor XI deficiency disease |
Variation | info |
Gene | F11 |
CLNDBN | Hereditary factor XI deficiency disease |
Reversed | 0 |
HGVS | NC_000004.11:g.187197471C>T |
CLNSRC | |
CLNACC | RCV000169125.1, |