rs786204722
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5 | Factor XI deficiency |
(-;G) | 3 | carrier of factor XI mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 186280265 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs786204722 |
dbSNP (classic) | rs786204722 |
ClinGen | rs786204722 |
ebi | rs786204722 |
HLI | rs786204722 |
Exac | rs786204722 |
Gnomad | rs786204722 |
Varsome | rs786204722 |
LitVar | rs786204722 |
Map | rs786204722 |
PheGenI | rs786204722 |
Biobank | rs786204722 |
1000 genomes | rs786204722 |
hgdp | rs786204722 |
ensembl | rs786204722 |
geneview | rs786204722 |
scholar | rs786204722 |
rs786204722 | |
pharmgkb | rs786204722 |
gwascentral | rs786204722 |
openSNP | rs786204722 |
23andMe | rs786204722 |
SNPshot | rs786204722 |
SNPdbe | rs786204722 |
MSV3d | rs786204722 |
GWAS Ctlg | rs786204722 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs786204722(-;-) |
Alt | Rs786204722(-;-) |
Reference | Rs786204722(G;G) |
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.187201419delG |
CLNSRC | |
CLNACC | RCV000169545.1, |