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rs587776615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776615(C;T)
Make rs587776615(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position138734135
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs587776615
ebirs587776615
HLIrs587776615
Exacrs587776615
Varsomers587776615
Maprs587776615
PheGenIrs587776615
hapmaprs587776615
1000 genomesrs587776615
hgdprs587776615
ensemblrs587776615
gopubmedrs587776615
geneviewrs587776615
scholarrs587776615
googlers587776615
pharmgkbrs587776615
gwascentralrs587776615
openSNPrs587776615
23andMers587776615
23andMe allrs587776615
SNP Nexus

SNPshotrs587776615
SNPdbers587776615
MSV3drs587776615
GWAS Ctlgrs587776615
Max Magnitude0
ClinVar
Risk rs587776615(T;T)
Alt rs587776615(T;T)
Reference rs587776615(C;C)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.138418880C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005459.3,