rs186254196
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs186254196(A;A) |
Make rs186254196(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 186252131 |
Gene | KLKB1 |
is a | snp |
is | mentioned by |
dbSNP | rs186254196 |
dbSNP (classic) | rs186254196 |
ClinGen | rs186254196 |
ebi | rs186254196 |
HLI | rs186254196 |
Exac | rs186254196 |
Gnomad | rs186254196 |
Varsome | rs186254196 |
LitVar | rs186254196 |
Map | rs186254196 |
PheGenI | rs186254196 |
Biobank | rs186254196 |
1000 genomes | rs186254196 |
hgdp | rs186254196 |
ensembl | rs186254196 |
geneview | rs186254196 |
scholar | rs186254196 |
rs186254196 | |
pharmgkb | rs186254196 |
gwascentral | rs186254196 |
openSNP | rs186254196 |
23andMe | rs186254196 |
SNPshot | rs186254196 |
SNPdbe | rs186254196 |
MSV3d | rs186254196 |
GWAS Ctlg | rs186254196 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs186254196(A;A) |
Alt | rs186254196(A;A) |
Reference | Rs186254196(G;G) |
Significance | Probable-Pathogenic |
Disease | Prekallikrein deficiency |
Variation | info |
Gene | KLKB1 |
CLNDBN | Prekallikrein deficiency |
Reversed | 0 |
HGVS | NC_000004.11:g.187173285G>A |
CLNSRC | |
CLNACC | RCV000490524.1, |