rs1057520303
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs1057520303(-;-) |
Make rs1057520303(-;GA) |
Make rs1057520303(GA;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48285118 |
Gene | LOC107984755, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520303 |
dbSNP (classic) | rs1057520303 |
ClinGen | rs1057520303 |
ebi | rs1057520303 |
HLI | rs1057520303 |
Exac | rs1057520303 |
Gnomad | rs1057520303 |
Varsome | rs1057520303 |
LitVar | rs1057520303 |
Map | rs1057520303 |
PheGenI | rs1057520303 |
Biobank | rs1057520303 |
1000 genomes | rs1057520303 |
hgdp | rs1057520303 |
ensembl | rs1057520303 |
geneview | rs1057520303 |
scholar | rs1057520303 |
rs1057520303 | |
pharmgkb | rs1057520303 |
gwascentral | rs1057520303 |
openSNP | rs1057520303 |
23andMe | rs1057520303 |
SNPshot | rs1057520303 |
SNPdbe | rs1057520303 |
MSV3d | rs1057520303 |
GWAS Ctlg | rs1057520303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520303(-;-) |
Alt | rs1057520303(-;-) |
Reference | Rs1057520303(AG;AG) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | Bartter syndrome, type 1, antenatal |
Reversed | 0 |
HGVS | NC_000015.9:g.48577315_48577316delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000438920.1, |