rs121908369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908369(A;A) |
Make rs121908369(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 138739606 |
Gene | ATP6V0A4 |
is a | snp |
is | mentioned by |
dbSNP | rs121908369 |
dbSNP (classic) | rs121908369 |
ClinGen | rs121908369 |
ebi | rs121908369 |
HLI | rs121908369 |
Exac | rs121908369 |
Gnomad | rs121908369 |
Varsome | rs121908369 |
LitVar | rs121908369 |
Map | rs121908369 |
PheGenI | rs121908369 |
Biobank | rs121908369 |
1000 genomes | rs121908369 |
hgdp | rs121908369 |
ensembl | rs121908369 |
geneview | rs121908369 |
scholar | rs121908369 |
rs121908369 | |
pharmgkb | rs121908369 |
gwascentral | rs121908369 |
openSNP | rs121908369 |
23andMe | rs121908369 |
SNPshot | rs121908369 |
SNPdbe | rs121908369 |
MSV3d | rs121908369 |
GWAS Ctlg | rs121908369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908369(A;A) |
Alt | rs121908369(A;A) |
Reference | Rs121908369(T;T) |
Significance | Pathogenic |
Disease | Renal tubular acidosis |
Variation | info |
Gene | ATP6V0A4 |
CLNDBN | Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss |
Reversed | 1 |
HGVS | NC_000007.13:g.138424351A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005465.4, |