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rs10258719

From SNPedia

Orientationplus
Stabilizedplus
Make rs10258719(A;A)
Make rs10258719(A;G)
Make rs10258719(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position138771243
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs10258719
ebirs10258719
HLIrs10258719
Exacrs10258719
Varsomers10258719
Maprs10258719
PheGenIrs10258719
hapmaprs10258719
1000 genomesrs10258719
hgdprs10258719
ensemblrs10258719
gopubmedrs10258719
geneviewrs10258719
scholarrs10258719
googlers10258719
pharmgkbrs10258719
gwascentralrs10258719
openSNPrs10258719
23andMers10258719
23andMe allrs10258719
SNP Nexus

SNPshotrs10258719
SNPdbers10258719
MSV3drs10258719
GWAS Ctlgrs10258719
GMAF0.3411
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene ATP6V0A4
allele G
frequency 0.258
sift AFFECT FUNCTION
HuRef 1103652718662
Disease Association Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR) (MIM:602722). RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorders characterized by functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cells results in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth.



GET Evidence
ATP6V0A4-V2A
aa_change Val2Ala
aa_change_short V2A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.734802
summary