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rs10258719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs10258719(A;G)
Make rs10258719(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position138771243
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs10258719
dbSNP (old)rs10258719
ClinGenrs10258719
ebirs10258719
HLIrs10258719
Exacrs10258719
Gnomadrs10258719
Varsomers10258719
LitVarrs10258719
Maprs10258719
PheGenIrs10258719
Biobankrs10258719
1000 genomesrs10258719
hgdprs10258719
ensemblrs10258719
gopubmedrs10258719
geneviewrs10258719
scholarrs10258719
googlers10258719
pharmgkbrs10258719
gwascentralrs10258719
openSNPrs10258719
23andMers10258719
23andMe allrs10258719
SNPshotrs10258719
SNPdbers10258719
MSV3drs10258719
GWAS Ctlgrs10258719
GMAF0.3411
Max Magnitude0
? (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,