rs765347751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765347751(A;A) |
Make rs765347751(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48246978 |
Gene | LOC107984758, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs765347751 |
dbSNP (classic) | rs765347751 |
ClinGen | rs765347751 |
ebi | rs765347751 |
HLI | rs765347751 |
Exac | rs765347751 |
Gnomad | rs765347751 |
Varsome | rs765347751 |
LitVar | rs765347751 |
Map | rs765347751 |
PheGenI | rs765347751 |
Biobank | rs765347751 |
1000 genomes | rs765347751 |
hgdp | rs765347751 |
ensembl | rs765347751 |
geneview | rs765347751 |
scholar | rs765347751 |
rs765347751 | |
pharmgkb | rs765347751 |
gwascentral | rs765347751 |
openSNP | rs765347751 |
23andMe | rs765347751 |
SNPshot | rs765347751 |
SNPdbe | rs765347751 |
MSV3d | rs765347751 |
GWAS Ctlg | rs765347751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765347751(A;A) |
Alt | rs765347751(A;A) |
Reference | Rs765347751(G;G) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | Bartter syndrome, type 1, antenatal |
Reversed | 0 |
HGVS | NC_000015.9:g.48539175G>A |
CLNSRC | |
CLNACC | RCV000200351.1, |