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rs28616230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28616230(A;A)
Make rs28616230(A;C)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position4171
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs28616230
ebirs28616230
HLIrs28616230
Exacrs28616230
Varsomers28616230
Maprs28616230
PheGenIrs28616230
hapmaprs28616230
1000 genomesrs28616230
hgdprs28616230
ensemblrs28616230
gopubmedrs28616230
geneviewrs28616230
scholarrs28616230
googlers28616230
pharmgkbrs28616230
gwascentralrs28616230
openSNPrs28616230
23andMers28616230
23andMe allrs28616230
SNP Nexus

SNPshotrs28616230
SNPdbers28616230
MSV3drs28616230
GWAS Ctlgrs28616230
Max Magnitude0
ClinVar
Risk rs28616230(A,T;A,T)
Alt rs28616230(A,T;A,T)
Reference rs28616230(C;C)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.4171C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010384.4,