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rs28939081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939081(A;A)
Make rs28939081(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position138709633
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs28939081
ebirs28939081
HLIrs28939081
Exacrs28939081
Varsomers28939081
Maprs28939081
PheGenIrs28939081
hapmaprs28939081
1000 genomesrs28939081
hgdprs28939081
ensemblrs28939081
gopubmedrs28939081
geneviewrs28939081
scholarrs28939081
googlers28939081
pharmgkbrs28939081
gwascentralrs28939081
openSNPrs28939081
23andMers28939081
23andMe allrs28939081
SNP Nexus

SNPshotrs28939081
SNPdbers28939081
MSV3drs28939081
GWAS Ctlgrs28939081
GMAF0.0
Max Magnitude0
OMIM605239
DescRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS
Variant0010
Relatedalso
ClinVar
Risk rs28939081(A;A)
Alt rs28939081(A;A)
Reference rs28939081(G;G)
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.138394378C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005466.3,