rs371443644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371443644(C;T) |
Make rs371443644(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 56865414 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs371443644 |
dbSNP (classic) | rs371443644 |
ClinGen | rs371443644 |
ebi | rs371443644 |
HLI | rs371443644 |
Exac | rs371443644 |
Gnomad | rs371443644 |
Varsome | rs371443644 |
LitVar | rs371443644 |
Map | rs371443644 |
PheGenI | rs371443644 |
Biobank | rs371443644 |
1000 genomes | rs371443644 |
hgdp | rs371443644 |
ensembl | rs371443644 |
geneview | rs371443644 |
scholar | rs371443644 |
rs371443644 | |
pharmgkb | rs371443644 |
gwascentral | rs371443644 |
openSNP | rs371443644 |
23andMe | rs371443644 |
SNPshot | rs371443644 |
SNPdbe | rs371443644 |
MSV3d | rs371443644 |
GWAS Ctlg | rs371443644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371443644(T;T) |
Alt | rs371443644(T;T) |
Reference | Rs371443644(C;C) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia not provided |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.56899326C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000087747.4, RCV000489628.1, |