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rs199476123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476123(A;A)
Make rs199476123(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position3946
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs199476123
ebirs199476123
HLIrs199476123
Exacrs199476123
Varsomers199476123
Maprs199476123
PheGenIrs199476123
hapmaprs199476123
1000 genomesrs199476123
hgdprs199476123
ensemblrs199476123
gopubmedrs199476123
geneviewrs199476123
scholarrs199476123
googlers199476123
pharmgkbrs199476123
gwascentralrs199476123
openSNPrs199476123
23andMers199476123
23andMe allrs199476123
SNP Nexus

SNPshotrs199476123
SNPdbers199476123
MSV3drs199476123
GWAS Ctlgrs199476123
Max Magnitude0
ClinVar
Risk rs199476123(A;A)
Alt rs199476123(A;A)
Reference rs199476123(G;G)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene ND1
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.3946G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010387.3,