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rs199476113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476113(A;G)
Make rs199476113(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeMT
Position11084
GeneMT-ND4
is asnp
is mentioned by
dbSNPrs199476113
ebirs199476113
HLIrs199476113
Exacrs199476113
Varsomers199476113
Maprs199476113
PheGenIrs199476113
hapmaprs199476113
1000 genomesrs199476113
hgdprs199476113
ensemblrs199476113
gopubmedrs199476113
geneviewrs199476113
scholarrs199476113
googlers199476113
pharmgkbrs199476113
gwascentralrs199476113
openSNPrs199476113
23andMers199476113
23andMe allrs199476113
SNP Nexus

SNPshotrs199476113
SNPdbers199476113
MSV3drs199476113
GWAS Ctlgrs199476113
GMAF0.004677
Max Magnitude0
ClinVar
Risk rs199476113(G;G)
Alt rs199476113(G;G)
Reference rs199476113(A;A)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene ND4
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.11084A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010355.3,