rs587776616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776616(-;-) |
Make rs587776616(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 138771143 |
Gene | ATP6V0A4 |
is a | snp |
is | mentioned by |
dbSNP | rs587776616 |
dbSNP (classic) | rs587776616 |
ClinGen | rs587776616 |
ebi | rs587776616 |
HLI | rs587776616 |
Exac | rs587776616 |
Gnomad | rs587776616 |
Varsome | rs587776616 |
LitVar | rs587776616 |
Map | rs587776616 |
PheGenI | rs587776616 |
Biobank | rs587776616 |
1000 genomes | rs587776616 |
hgdp | rs587776616 |
ensembl | rs587776616 |
geneview | rs587776616 |
scholar | rs587776616 |
rs587776616 | |
pharmgkb | rs587776616 |
gwascentral | rs587776616 |
openSNP | rs587776616 |
23andMe | rs587776616 |
SNPshot | rs587776616 |
SNPdbe | rs587776616 |
MSV3d | rs587776616 |
GWAS Ctlg | rs587776616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776616(-;-) |
Alt | rs587776616(-;-) |
Reference | Rs587776616(A;A) |
Significance | Pathogenic |
Disease | Renal tubular acidosis |
Variation | info |
Gene | ATP6V0A4 |
CLNDBN | Renal tubular acidosis, distal, autosomal recessive |
Reversed | 0 |
HGVS | NC_000007.13:g.138455888delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005460.3, |