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rs121918136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918136(C;C)
Make rs121918136(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49022146
GeneDALRD3, NDUFAF3
is asnp
is mentioned by
dbSNPrs121918136
ebirs121918136
HLIrs121918136
Exacrs121918136
Varsomers121918136
Maprs121918136
PheGenIrs121918136
hapmaprs121918136
1000 genomesrs121918136
hgdprs121918136
ensemblrs121918136
gopubmedrs121918136
geneviewrs121918136
scholarrs121918136
googlers121918136
pharmgkbrs121918136
gwascentralrs121918136
openSNPrs121918136
23andMers121918136
23andMe allrs121918136
SNP Nexus

SNPshotrs121918136
SNPdbers121918136
MSV3drs121918136
GWAS Ctlgrs121918136
Max Magnitude0
OMIM612911
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918136(C;C)
Alt rs121918136(C;C)
Reference rs121918136(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene MIR425 DALRD3 NDUFAF3 MIR191
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000003.11:g.49059579T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000452.2,