rs863225462
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863225462(A;G) |
Make rs863225462(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44253228 |
Gene | SLC4A1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225462 |
dbSNP (classic) | rs863225462 |
ClinGen | rs863225462 |
ebi | rs863225462 |
HLI | rs863225462 |
Exac | rs863225462 |
Gnomad | rs863225462 |
Varsome | rs863225462 |
LitVar | rs863225462 |
Map | rs863225462 |
PheGenI | rs863225462 |
Biobank | rs863225462 |
1000 genomes | rs863225462 |
hgdp | rs863225462 |
ensembl | rs863225462 |
geneview | rs863225462 |
scholar | rs863225462 |
rs863225462 | |
pharmgkb | rs863225462 |
gwascentral | rs863225462 |
openSNP | rs863225462 |
23andMe | rs863225462 |
SNPshot | rs863225462 |
SNPdbe | rs863225462 |
MSV3d | rs863225462 |
GWAS Ctlg | rs863225462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225462(G;G) |
Alt | rs863225462(G;G) |
Reference | Rs863225462(A;A) |
Significance | Pathogenic |
Disease | Pseudohyperkalemia Cardiff |
Variation | info |
Gene | SLC4A1 |
CLNDBN | Pseudohyperkalemia Cardiff |
Reversed | 1 |
HGVS | NC_000017.10:g.42330596T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000202413.1, |