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

rs1057516063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516063(C;C)
Make rs1057516063(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9166
GeneATP6
is asnp
is mentioned by
dbSNPrs1057516063
dbSNP (classic)rs1057516063
ClinGenrs1057516063
ebirs1057516063
HLIrs1057516063
Exacrs1057516063
Gnomadrs1057516063
Varsomers1057516063
LitVarrs1057516063
Maprs1057516063
PheGenIrs1057516063
Biobankrs1057516063
1000 genomesrs1057516063
hgdprs1057516063
ensemblrs1057516063
geneviewrs1057516063
scholarrs1057516063
googlers1057516063
pharmgkbrs1057516063
gwascentralrs1057516063
openSNPrs1057516063
23andMers1057516063
SNPshotrs1057516063
SNPdbers1057516063
MSV3drs1057516063
GWAS Ctlgrs1057516063
Max Magnitude0
ClinVar
Risk rs1057516063(C;C)
Alt rs1057516063(C;C)
Reference Rs1057516063(T;T)
Significance Probable-Pathogenic
Disease Optic neuropathy
Variation info
Gene ATP6
CLNDBN Optic neuropathy
Reversed 0
HGVS NC_012920.1:m.9166T>C
CLNSRC
CLNACC RCV000408929.1,