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rs199476119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476119(C;C)
Make rs199476119(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position4160
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs199476119
ebirs199476119
HLIrs199476119
Exacrs199476119
Varsomers199476119
Maprs199476119
PheGenIrs199476119
hapmaprs199476119
1000 genomesrs199476119
hgdprs199476119
ensemblrs199476119
gopubmedrs199476119
geneviewrs199476119
scholarrs199476119
googlers199476119
pharmgkbrs199476119
gwascentralrs199476119
openSNPrs199476119
23andMers199476119
23andMe allrs199476119
SNP Nexus

SNPshotrs199476119
SNPdbers199476119
MSV3drs199476119
GWAS Ctlgrs199476119
Max Magnitude0
ClinVar
Risk rs199476119(C;C)
Alt rs199476119(C;C)
Reference rs199476119(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.4160T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010372.2,