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rs199476134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476134(C;C)
Make rs199476134(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position9101
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476134
ebirs199476134
HLIrs199476134
Exacrs199476134
Varsomers199476134
Maprs199476134
PheGenIrs199476134
hapmaprs199476134
1000 genomesrs199476134
hgdprs199476134
ensemblrs199476134
gopubmedrs199476134
geneviewrs199476134
scholarrs199476134
googlers199476134
pharmgkbrs199476134
gwascentralrs199476134
openSNPrs199476134
23andMers199476134
23andMe allrs199476134
SNP Nexus

SNPshotrs199476134
SNPdbers199476134
MSV3drs199476134
GWAS Ctlgrs199476134
GMAF0.0009355
Max Magnitude0
ClinVar
Risk rs199476134(C;C)
Alt rs199476134(C;C)
Reference rs199476134(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ATP6
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.9101T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010277.2,