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

rs1057516062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516062(C;C)
Make rs1057516062(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position8418
GeneATP8
is asnp
is mentioned by
dbSNPrs1057516062
dbSNP (classic)rs1057516062
ClinGenrs1057516062
ebirs1057516062
HLIrs1057516062
Exacrs1057516062
Gnomadrs1057516062
Varsomers1057516062
LitVarrs1057516062
Maprs1057516062
PheGenIrs1057516062
Biobankrs1057516062
1000 genomesrs1057516062
hgdprs1057516062
ensemblrs1057516062
geneviewrs1057516062
scholarrs1057516062
googlers1057516062
pharmgkbrs1057516062
gwascentralrs1057516062
openSNPrs1057516062
23andMers1057516062
23andMe allrs1057516062
SNPshotrs1057516062
SNPdbers1057516062
MSV3drs1057516062
GWAS Ctlgrs1057516062
Max Magnitude0
ClinVar
Risk rs1057516062(C;C)
Alt rs1057516062(C;C)
Reference Rs1057516062(T;T)
Significance Probable-Pathogenic
Disease Optic neuropathy
Variation info
Gene ATP8
CLNDBN Optic neuropathy
Reversed 0
HGVS NC_012920.1:m.8418T>C
CLNSRC
CLNACC RCV000408923.1,