rs281875275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Factor XI deficiency |
(A;G) | 3 | carrier of factor XI mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 186287800 |
Gene | F11, F11-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs281875275 |
dbSNP (classic) | rs281875275 |
ClinGen | rs281875275 |
ebi | rs281875275 |
HLI | rs281875275 |
Exac | rs281875275 |
Gnomad | rs281875275 |
Varsome | rs281875275 |
LitVar | rs281875275 |
Map | rs281875275 |
PheGenI | rs281875275 |
Biobank | rs281875275 |
1000 genomes | rs281875275 |
hgdp | rs281875275 |
ensembl | rs281875275 |
geneview | rs281875275 |
scholar | rs281875275 |
rs281875275 | |
pharmgkb | rs281875275 |
gwascentral | rs281875275 |
openSNP | rs281875275 |
23andMe | rs281875275 |
SNPshot | rs281875275 |
SNPdbe | rs281875275 |
MSV3d | rs281875275 |
GWAS Ctlg | rs281875275 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs281875275(A;A) |
Alt | Rs281875275(A;A) |
Reference | Rs281875275(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Hereditary factor XI deficiency disease |
Variation | info |
Gene | F11-AS1 F11 |
CLNDBN | not provided Hereditary factor XI deficiency disease |
Reversed | 0 |
HGVS | NC_000004.11:g.187208954G>A |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059018.1, RCV000169135.1, |