Have questions? Visit https://www.reddit.com/r/SNPedia

rs199476124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476124(C;C)
Make rs199476124(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position3949
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs199476124
ebirs199476124
HLIrs199476124
Exacrs199476124
Varsomers199476124
Maprs199476124
PheGenIrs199476124
hapmaprs199476124
1000 genomesrs199476124
hgdprs199476124
ensemblrs199476124
gopubmedrs199476124
geneviewrs199476124
scholarrs199476124
googlers199476124
pharmgkbrs199476124
gwascentralrs199476124
openSNPrs199476124
23andMers199476124
23andMe allrs199476124
SNP Nexus

SNPshotrs199476124
SNPdbers199476124
MSV3drs199476124
GWAS Ctlgrs199476124
Max Magnitude0
ClinVar
Risk rs199476124(C;C)
Alt rs199476124(C;C)
Reference rs199476124(T;T)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene ND1
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.3949T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010388.2,