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rs587776617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776617(C;T)
Make rs587776617(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position138762435
GeneATP6V0A4
is asnp
is mentioned by
dbSNPrs587776617
ebirs587776617
HLIrs587776617
Exacrs587776617
Varsomers587776617
Maprs587776617
PheGenIrs587776617
hapmaprs587776617
1000 genomesrs587776617
hgdprs587776617
ensemblrs587776617
gopubmedrs587776617
geneviewrs587776617
scholarrs587776617
googlers587776617
pharmgkbrs587776617
gwascentralrs587776617
openSNPrs587776617
23andMers587776617
23andMe allrs587776617
SNP Nexus

SNPshotrs587776617
SNPdbers587776617
MSV3drs587776617
GWAS Ctlgrs587776617
Max Magnitude0
ClinVar
Risk rs587776617(C,T;C,T)
Alt rs587776617(C,T;C,T)
Reference rs587776617(G;G)
Significance Pathogenic
Disease Renal tubular acidosis
Variation info
Gene ATP6V0A4
CLNDBN Renal tubular acidosis, distal, autosomal recessive
Reversed 1
HGVS NC_000007.13:g.138447180C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005462.3,