rs10258719
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs10258719(A;G) |
Make rs10258719(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 138771243 |
Gene | ATP6V0A4 |
is a | snp |
is | mentioned by |
dbSNP | rs10258719 |
dbSNP (classic) | rs10258719 |
ClinGen | rs10258719 |
ebi | rs10258719 |
HLI | rs10258719 |
Exac | rs10258719 |
Gnomad | rs10258719 |
Varsome | rs10258719 |
LitVar | rs10258719 |
Map | rs10258719 |
PheGenI | rs10258719 |
Biobank | rs10258719 |
1000 genomes | rs10258719 |
hgdp | rs10258719 |
ensembl | rs10258719 |
geneview | rs10258719 |
scholar | rs10258719 |
rs10258719 | |
pharmgkb | rs10258719 |
gwascentral | rs10258719 |
openSNP | rs10258719 |
23andMe | rs10258719 |
SNPshot | rs10258719 |
SNPdbe | rs10258719 |
MSV3d | rs10258719 |
GWAS Ctlg | rs10258719 |
GMAF | 0.3411 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs10258719(G;G) |
Alt | rs10258719(G;G) |
Reference | Rs10258719(A;A) |
Significance | Non-pathogenic |
Disease | not specified Distal Renal Tubular Acidosis |
Variation | info |
Gene | ATP6V0A4 |
CLNDBN | not specified Distal Renal Tubular Acidosis, Recessive |
Reversed | 0 |
HGVS | NC_000007.13:g.138455988A>G |
CLNSRC | |
CLNACC | RCV000245255.1, RCV000357816.1, |