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rs28384199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28384199(C;G)
Make rs28384199(G;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position11777
GeneMT-ND4
is asnp
is mentioned by
dbSNPrs28384199
ebirs28384199
HLIrs28384199
Exacrs28384199
Varsomers28384199
Maprs28384199
PheGenIrs28384199
hapmaprs28384199
1000 genomesrs28384199
hgdprs28384199
ensemblrs28384199
gopubmedrs28384199
geneviewrs28384199
scholarrs28384199
googlers28384199
pharmgkbrs28384199
gwascentralrs28384199
openSNPrs28384199
23andMers28384199
23andMe allrs28384199
SNP Nexus

SNPshotrs28384199
SNPdbers28384199
MSV3drs28384199
GWAS Ctlgrs28384199
Max Magnitude0
ClinVar
Risk rs28384199(A,G;A,G)
Alt rs28384199(A,G;A,G)
Reference rs28384199(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene ND4
CLNDBN Mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.11777C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010357.4, RCV000144013.2,