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rs121918134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918134(C;C)
Make rs121918134(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49022497
GeneDALRD3, NDUFAF3
is asnp
is mentioned by
dbSNPrs121918134
ebirs121918134
HLIrs121918134
Exacrs121918134
Varsomers121918134
Maprs121918134
PheGenIrs121918134
hapmaprs121918134
1000 genomesrs121918134
hgdprs121918134
ensemblrs121918134
gopubmedrs121918134
geneviewrs121918134
scholarrs121918134
googlers121918134
pharmgkbrs121918134
gwascentralrs121918134
openSNPrs121918134
23andMers121918134
23andMe allrs121918134
SNP Nexus

SNPshotrs121918134
SNPdbers121918134
MSV3drs121918134
GWAS Ctlgrs121918134
Max Magnitude0
OMIM612911
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918134(A,C;A,C)
Alt rs121918134(A,C;A,C)
Reference rs121918134(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene DALRD3 NDUFAF3 MIR191
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000003.11:g.49059930G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000450.2,