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rs201863060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201863060(C;C)
Make rs201863060(C;T)
ReferenceGRCh38 38.1/142
ChromosomeMT
Position12338
GeneMT-ND5
is asnp
is mentioned by
dbSNPrs201863060
ebirs201863060
HLIrs201863060
Exacrs201863060
Varsomers201863060
Maprs201863060
PheGenIrs201863060
hapmaprs201863060
1000 genomesrs201863060
hgdprs201863060
ensemblrs201863060
gopubmedrs201863060
geneviewrs201863060
scholarrs201863060
googlers201863060
pharmgkbrs201863060
gwascentralrs201863060
openSNPrs201863060
23andMers201863060
23andMe allrs201863060
SNP Nexus

SNPshotrs201863060
SNPdbers201863060
MSV3drs201863060
GWAS Ctlgrs201863060
Max Magnitude0
ClinVar
Risk rs201863060(C;C)
Alt rs201863060(C;C)
Reference rs201863060(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND5
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.12338T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022893.4,