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rs267606671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606671(A;A)
Make rs267606671(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position138706689
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs267606671
dbSNP (classic)rs267606671
ClinGenrs267606671
ebirs267606671
HLIrs267606671
Exacrs267606671
Gnomadrs267606671
Varsomers267606671
LitVarrs267606671
Maprs267606671
PheGenIrs267606671
Biobankrs267606671
1000 genomesrs267606671
hgdprs267606671
ensemblrs267606671
geneviewrs267606671
scholarrs267606671
googlers267606671
pharmgkbrs267606671
gwascentralrs267606671
openSNPrs267606671
23andMers267606671
SNPshotrs267606671
SNPdbers267606671
MSV3drs267606671
GWAS Ctlgrs267606671
Max Magnitude0
ClinVar
Risk rs267606671(A;A)
Alt rs267606671(A;A)
Reference Rs267606671(G;G)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 1
HGVS NC_000007.13:g.138391434C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005458.4,