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rs121918135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918135(C;C)
Make rs121918135(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49022903
GeneDALRD3, NDUFAF3
is asnp
is mentioned by
dbSNPrs121918135
ebirs121918135
HLIrs121918135
Exacrs121918135
Varsomers121918135
Maprs121918135
PheGenIrs121918135
hapmaprs121918135
1000 genomesrs121918135
hgdprs121918135
ensemblrs121918135
gopubmedrs121918135
geneviewrs121918135
scholarrs121918135
googlers121918135
pharmgkbrs121918135
gwascentralrs121918135
openSNPrs121918135
23andMers121918135
23andMe allrs121918135
SNP Nexus

SNPshotrs121918135
SNPdbers121918135
MSV3drs121918135
GWAS Ctlgrs121918135
Max Magnitude0
OMIM612911
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918135(C;C)
Alt rs121918135(C;C)
Reference rs121918135(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene DALRD3 NDUFAF3
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000003.11:g.49060336G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000451.2,