rs121964949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121964949(C;T) |
Make rs121964949(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186236789 |
Gene | KLKB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121964949 |
dbSNP (classic) | rs121964949 |
ClinGen | rs121964949 |
ebi | rs121964949 |
HLI | rs121964949 |
Exac | rs121964949 |
Gnomad | rs121964949 |
Varsome | rs121964949 |
LitVar | rs121964949 |
Map | rs121964949 |
PheGenI | rs121964949 |
Biobank | rs121964949 |
1000 genomes | rs121964949 |
hgdp | rs121964949 |
ensembl | rs121964949 |
geneview | rs121964949 |
scholar | rs121964949 |
rs121964949 | |
pharmgkb | rs121964949 |
gwascentral | rs121964949 |
openSNP | rs121964949 |
23andMe | rs121964949 |
SNPshot | rs121964949 |
SNPdbe | rs121964949 |
MSV3d | rs121964949 |
GWAS Ctlg | rs121964949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964949(T;T) |
Alt | rs121964949(T;T) |
Reference | Rs121964949(C;C) |
Significance | Pathogenic |
Disease | Prekallikrein deficiency |
Variation | info |
Gene | KLKB1 |
CLNDBN | Prekallikrein deficiency |
Reversed | 0 |
HGVS | NC_000004.11:g.187157943C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012813.16, |