rs267607051
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607051(A;A) |
Make rs267607051(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 56894594 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs267607051 |
dbSNP (classic) | rs267607051 |
ClinGen | rs267607051 |
ebi | rs267607051 |
HLI | rs267607051 |
Exac | rs267607051 |
Gnomad | rs267607051 |
Varsome | rs267607051 |
LitVar | rs267607051 |
Map | rs267607051 |
PheGenI | rs267607051 |
Biobank | rs267607051 |
1000 genomes | rs267607051 |
hgdp | rs267607051 |
ensembl | rs267607051 |
geneview | rs267607051 |
scholar | rs267607051 |
rs267607051 | |
pharmgkb | rs267607051 |
gwascentral | rs267607051 |
openSNP | rs267607051 |
23andMe | rs267607051 |
SNPshot | rs267607051 |
SNPdbe | rs267607051 |
MSV3d | rs267607051 |
GWAS Ctlg | rs267607051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607051(A;A) |
Alt | rs267607051(A;A) |
Reference | Rs267607051(G;G) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56928506G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009127.3, |