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rs121908368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908368(C;T)
Make rs121908368(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138739541
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs121908368
ebirs121908368
HLIrs121908368
Exacrs121908368
Varsomers121908368
Maprs121908368
PheGenIrs121908368
hapmaprs121908368
1000 genomesrs121908368
hgdprs121908368
ensemblrs121908368
gopubmedrs121908368
geneviewrs121908368
scholarrs121908368
googlers121908368
pharmgkbrs121908368
gwascentralrs121908368
openSNPrs121908368
23andMers121908368
23andMe allrs121908368
SNP Nexus

SNPshotrs121908368
SNPdbers121908368
MSV3drs121908368
GWAS Ctlgrs121908368
Max Magnitude0
OMIM605239
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908368(T;T)
Alt rs121908368(T;T)
Reference rs121908368(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.138424286G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005464.3,