rs1552311
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(T;T) | 0 | common in clinvar |
Make rs1552311(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48288516 |
Gene | LOC107984755, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1552311 |
dbSNP (classic) | rs1552311 |
ClinGen | rs1552311 |
ebi | rs1552311 |
HLI | rs1552311 |
Exac | rs1552311 |
Gnomad | rs1552311 |
Varsome | rs1552311 |
LitVar | rs1552311 |
Map | rs1552311 |
PheGenI | rs1552311 |
Biobank | rs1552311 |
1000 genomes | rs1552311 |
hgdp | rs1552311 |
ensembl | rs1552311 |
geneview | rs1552311 |
scholar | rs1552311 |
rs1552311 | |
pharmgkb | rs1552311 |
gwascentral | rs1552311 |
openSNP | rs1552311 |
23andMe | rs1552311 |
SNPshot | rs1552311 |
SNPdbe | rs1552311 |
MSV3d | rs1552311 |
GWAS Ctlg | rs1552311 |
GMAF | 0.001377 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs1552311(C;C) |
Alt | Rs1552311(C;C) |
Reference | Rs1552311(T;T) |
Significance | Non-pathogenic |
Disease | not specified Antenatal Bartter Syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | not specified Antenatal Bartter Syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.48580713T>C |
CLNSRC | |
CLNACC | RCV000248948.1, RCV000323585.1, |