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rs3807153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0.1 benign
(C;T) 1 carrier of a benign change
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position138733046
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs3807153
dbSNP (classic)rs3807153
ClinGenrs3807153
ebirs3807153
HLIrs3807153
Exacrs3807153
Gnomadrs3807153
Varsomers3807153
LitVarrs3807153
Maprs3807153
PheGenIrs3807153
Biobankrs3807153
1000 genomesrs3807153
hgdprs3807153
ensemblrs3807153
geneviewrs3807153
scholarrs3807153
googlers3807153
pharmgkbrs3807153
gwascentralrs3807153
openSNPrs3807153
23andMers3807153
23andMe allrs3807153
SNPshotrs3807153
SNPdbers3807153
MSV3drs3807153
GWAS Ctlgrs3807153
GMAF0.07805
Max Magnitude1
? (C;C) (C;T) (T;T) 28


OMIM605239
DescRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
Variant0005
Relatedalso


ClinVar
Risk Rs3807153(C;C)
Alt Rs3807153(C;C)
Reference Rs3807153(T;T)
Significance Pathogenic
Disease Renal tubular acidosis not specified Distal Renal Tubular Acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive not specified Distal Renal Tubular Acidosis, Recessive
Reversed 1
HGVS NC_000007.13:g.138417791A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005461.4, RCV000244134.1, RCV000362955.1,