rs533335580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier of factor XI mutation |
(T;T) | 5 | Factor XI deficiency |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 186284155 |
Gene | F11 |
is a | snp |
is | mentioned by |
dbSNP | rs533335580 |
dbSNP (classic) | rs533335580 |
ClinGen | rs533335580 |
ebi | rs533335580 |
HLI | rs533335580 |
Exac | rs533335580 |
Gnomad | rs533335580 |
Varsome | rs533335580 |
LitVar | rs533335580 |
Map | rs533335580 |
PheGenI | rs533335580 |
Biobank | rs533335580 |
1000 genomes | rs533335580 |
hgdp | rs533335580 |
ensembl | rs533335580 |
geneview | rs533335580 |
scholar | rs533335580 |
rs533335580 | |
pharmgkb | rs533335580 |
gwascentral | rs533335580 |
openSNP | rs533335580 |
23andMe | rs533335580 |
SNPshot | rs533335580 |
SNPdbe | rs533335580 |
MSV3d | rs533335580 |
GWAS Ctlg | rs533335580 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs533335580(T;T) |
Alt | Rs533335580(T;T) |
Reference | Rs533335580(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | F11 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.187205309C>T |
CLNSRC | |
CLNACC | RCV000428449.1, |