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rs199974018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199974018(C;C)
Make rs199974018(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position12811
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs199974018
ebirs199974018
HLIrs199974018
Exacrs199974018
Varsomers199974018
Maprs199974018
PheGenIrs199974018
hapmaprs199974018
1000 genomesrs199974018
hgdprs199974018
ensemblrs199974018
gopubmedrs199974018
geneviewrs199974018
scholarrs199974018
googlers199974018
pharmgkbrs199974018
gwascentralrs199974018
openSNPrs199974018
23andMers199974018
23andMe allrs199974018
SNP Nexus

SNPshotrs199974018
SNPdbers199974018
MSV3drs199974018
GWAS Ctlgrs199974018
Max Magnitude0
ClinVar
Risk rs199974018(C;C)
Alt rs199974018(C;C)
Reference rs199974018(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.12811T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055698.1,