rs756908183
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 | 186274190 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs756908183 |
dbSNP (classic) | rs756908183 |
ClinGen | rs756908183 |
ebi | rs756908183 |
HLI | rs756908183 |
Exac | rs756908183 |
Gnomad | rs756908183 |
Varsome | rs756908183 |
LitVar | rs756908183 |
Map | rs756908183 |
PheGenI | rs756908183 |
Biobank | rs756908183 |
1000 genomes | rs756908183 |
hgdp | rs756908183 |
ensembl | rs756908183 |
geneview | rs756908183 |
scholar | rs756908183 |
rs756908183 | |
pharmgkb | rs756908183 |
gwascentral | rs756908183 |
openSNP | rs756908183 |
23andMe | rs756908183 |
SNPshot | rs756908183 |
SNPdbe | rs756908183 |
MSV3d | rs756908183 |
GWAS Ctlg | rs756908183 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs756908183(T;T) |
Alt | Rs756908183(T;T) |
Reference | Rs756908183(C;C) |
Significance | Other |
Disease | Hereditary factor XI deficiency disease |
Variation | info |
Gene | F11 |
CLNDBN | Hereditary factor XI deficiency disease |
Reversed | 0 |
HGVS | NC_000004.11:g.187195344C>T |
CLNSRC | |
CLNACC | RCV000169273.2, |