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rs3807153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0.1 benign
(C;T) 1 carrier of a benign change
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position138733046
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs3807153
ebirs3807153
HLIrs3807153
Exacrs3807153
Varsomers3807153
Maprs3807153
PheGenIrs3807153
hapmaprs3807153
1000 genomesrs3807153
hgdprs3807153
ensemblrs3807153
gopubmedrs3807153
geneviewrs3807153
scholarrs3807153
googlers3807153
pharmgkbrs3807153
gwascentralrs3807153
openSNPrs3807153
23andMers3807153
23andMe allrs3807153
SNP Nexus

SNPshotrs3807153
SNPdbers3807153
MSV3drs3807153
GWAS Ctlgrs3807153
GMAF0.07805
Max Magnitude1
? (C;C) (C;T) (T;T) 28
OMIM605239
DescRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
Variant0005
Relatedalso


ClinVar
Risk rs3807153(C;C)
Alt rs3807153(C;C)
Reference rs3807153(T;T)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 1
HGVS NC_000007.13:g.138417791A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005461.3,



GET Evidence
ATP6V0A4-M580T
aa_change Met580Thr
aa_change_short M580T
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0975088
summary This was observed in a patient with distal renal tubular acidosis, but frequency in 1000 genomes and HapMap (7% and 12.5%) means this variant is likely benign. Distal renal tubular acidosis occurs when the alpha intercalated cells of the cortical collecting duct fail to secrete acid, and consequently, the body retains such acid. The acid retention in turn givew rise to symptoms such as hypokalemia, Urinary stone formation, nephrocalcinosis (deposition of calcium in the substance of the kidney), and bone demineralisation (causing rickets in children and osteomalacia in adults).