rs786204724
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Factor XI deficiency |
(A;C) | 3 | carrier of factor XI mutation |
(C;C) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 186285646 |
Gene | F11, F11-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204724 |
dbSNP (classic) | rs786204724 |
ClinGen | rs786204724 |
ebi | rs786204724 |
HLI | rs786204724 |
Exac | rs786204724 |
Gnomad | rs786204724 |
Varsome | rs786204724 |
LitVar | rs786204724 |
Map | rs786204724 |
PheGenI | rs786204724 |
Biobank | rs786204724 |
1000 genomes | rs786204724 |
hgdp | rs786204724 |
ensembl | rs786204724 |
geneview | rs786204724 |
scholar | rs786204724 |
rs786204724 | |
pharmgkb | rs786204724 |
gwascentral | rs786204724 |
openSNP | rs786204724 |
23andMe | rs786204724 |
SNPshot | rs786204724 |
SNPdbe | rs786204724 |
MSV3d | rs786204724 |
GWAS Ctlg | rs786204724 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs786204724(A;A) |
Alt | Rs786204724(A;A) |
Reference | Rs786204724(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary factor XI deficiency disease |
Variation | info |
Gene | F11-AS1 F11 |
CLNDBN | Hereditary factor XI deficiency disease |
Reversed | 0 |
HGVS | NC_000004.11:g.187206800C>A |
CLNSRC | |
CLNACC | RCV000169556.1, |