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rs267606689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606689(A;C)
Make rs267606689(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position13794939
GeneC20orf7
is asnp
is mentioned by
dbSNPrs267606689
ebirs267606689
HLIrs267606689
Exacrs267606689
Varsomers267606689
Maprs267606689
PheGenIrs267606689
hapmaprs267606689
1000 genomesrs267606689
hgdprs267606689
ensemblrs267606689
gopubmedrs267606689
geneviewrs267606689
scholarrs267606689
googlers267606689
pharmgkbrs267606689
gwascentralrs267606689
openSNPrs267606689
23andMers267606689
23andMe allrs267606689
SNP Nexus

SNPshotrs267606689
SNPdbers267606689
MSV3drs267606689
GWAS Ctlgrs267606689
Max Magnitude0
ClinVar
Risk rs267606689(C;C)
Alt rs267606689(C;C)
Reference rs267606689(A;A)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF5
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000020.10:g.13775585A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000601.2,