rs786204429
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5 | Factor XI deficiency |
(-;A) | 3 | carrier of factor XI mutation |
(A;A) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 186280520 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs786204429 |
dbSNP (classic) | rs786204429 |
ClinGen | rs786204429 |
ebi | rs786204429 |
HLI | rs786204429 |
Exac | rs786204429 |
Gnomad | rs786204429 |
Varsome | rs786204429 |
LitVar | rs786204429 |
Map | rs786204429 |
PheGenI | rs786204429 |
Biobank | rs786204429 |
1000 genomes | rs786204429 |
hgdp | rs786204429 |
ensembl | rs786204429 |
geneview | rs786204429 |
scholar | rs786204429 |
rs786204429 | |
pharmgkb | rs786204429 |
gwascentral | rs786204429 |
openSNP | rs786204429 |
23andMe | rs786204429 |
SNPshot | rs786204429 |
SNPdbe | rs786204429 |
MSV3d | rs786204429 |
GWAS Ctlg | rs786204429 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs786204429(-;-) |
Alt | Rs786204429(-;-) |
Reference | Rs786204429(A;A) |
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.187201674delA |
CLNSRC | |
CLNACC | RCV000169028.1, |