rs1057516431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5 | Factor XI deficiency |
(-;AC) | 3 | carrier of factor XI mutation |
(AC;AC) | 0 | common/normal |
(CA;CA) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 186280321 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516431 |
dbSNP (classic) | rs1057516431 |
ClinGen | rs1057516431 |
ebi | rs1057516431 |
HLI | rs1057516431 |
Exac | rs1057516431 |
Gnomad | rs1057516431 |
Varsome | rs1057516431 |
LitVar | rs1057516431 |
Map | rs1057516431 |
PheGenI | rs1057516431 |
Biobank | rs1057516431 |
1000 genomes | rs1057516431 |
hgdp | rs1057516431 |
ensembl | rs1057516431 |
geneview | rs1057516431 |
scholar | rs1057516431 |
rs1057516431 | |
pharmgkb | rs1057516431 |
gwascentral | rs1057516431 |
openSNP | rs1057516431 |
23andMe | rs1057516431 |
SNPshot | rs1057516431 |
SNPdbe | rs1057516431 |
MSV3d | rs1057516431 |
GWAS Ctlg | rs1057516431 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs1057516431(-;-) |
Alt | Rs1057516431(-;-) |
Reference | Rs1057516431(CA;CA) |
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.187201475_187201476delAC |
CLNSRC | |
CLNACC | RCV000410660.1, |