rs764893806
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764893806(A;A) |
Make rs764893806(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 219216028 |
Gene | ABCB6 |
is a | snp |
is | mentioned by |
dbSNP | rs764893806 |
dbSNP (classic) | rs764893806 |
ClinGen | rs764893806 |
ebi | rs764893806 |
HLI | rs764893806 |
Exac | rs764893806 |
Gnomad | rs764893806 |
Varsome | rs764893806 |
LitVar | rs764893806 |
Map | rs764893806 |
PheGenI | rs764893806 |
Biobank | rs764893806 |
1000 genomes | rs764893806 |
hgdp | rs764893806 |
ensembl | rs764893806 |
geneview | rs764893806 |
scholar | rs764893806 |
rs764893806 | |
pharmgkb | rs764893806 |
gwascentral | rs764893806 |
openSNP | rs764893806 |
23andMe | rs764893806 |
SNPshot | rs764893806 |
SNPdbe | rs764893806 |
MSV3d | rs764893806 |
GWAS Ctlg | rs764893806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764893806(A;A) |
Alt | rs764893806(A;A) |
Reference | Rs764893806(G;G) |
Significance | Pathogenic |
Disease | Pseudohyperkalemia |
Variation | info |
Gene | ABCB6 |
CLNDBN | Pseudohyperkalemia, familial, 2, due to red cell leak |
Reversed | 0 |
HGVS | NC_000002.11:g.220080750G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000202404.1, |