Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908369(A;A)
Make rs121908369(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138739606
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs121908369
ebirs121908369
HLIrs121908369
Exacrs121908369
Varsomers121908369
Maprs121908369
PheGenIrs121908369
hapmaprs121908369
1000 genomesrs121908369
hgdprs121908369
ensemblrs121908369
gopubmedrs121908369
geneviewrs121908369
scholarrs121908369
googlers121908369
pharmgkbrs121908369
gwascentralrs121908369
openSNPrs121908369
23andMers121908369
23andMe allrs121908369
SNP Nexus

SNPshotrs121908369
SNPdbers121908369
MSV3drs121908369
GWAS Ctlgrs121908369
Max Magnitude0
OMIM605239
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908369(A;A)
Alt rs121908369(A;A)
Reference rs121908369(T;T)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss
Reversed 1
HGVS NC_000007.13:g.138424351A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005465.3,