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rs121908367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908367(C;T)
Make rs121908367(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138715764
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs121908367
ebirs121908367
HLIrs121908367
Exacrs121908367
Varsomers121908367
Maprs121908367
PheGenIrs121908367
hapmaprs121908367
1000 genomesrs121908367
hgdprs121908367
ensemblrs121908367
gopubmedrs121908367
geneviewrs121908367
scholarrs121908367
googlers121908367
pharmgkbrs121908367
gwascentralrs121908367
openSNPrs121908367
23andMers121908367
23andMe allrs121908367
SNP Nexus

SNPshotrs121908367
SNPdbers121908367
MSV3drs121908367
GWAS Ctlgrs121908367
Max Magnitude0
OMIM605239
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908367(T;T)
Alt rs121908367(T;T)
Reference rs121908367(C;C)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 1
HGVS NC_000007.13:g.138400509G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005457.3,