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rs397514618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514618(C;C)
Make rs397514618(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68033000
GeneMIR4691, NDUFS8
is asnp
is mentioned by
dbSNPrs397514618
ebirs397514618
HLIrs397514618
Exacrs397514618
Varsomers397514618
Maprs397514618
PheGenIrs397514618
hapmaprs397514618
1000 genomesrs397514618
hgdprs397514618
ensemblrs397514618
gopubmedrs397514618
geneviewrs397514618
scholarrs397514618
googlers397514618
pharmgkbrs397514618
gwascentralrs397514618
openSNPrs397514618
23andMers397514618
23andMe allrs397514618
SNP Nexus

SNPshotrs397514618
SNPdbers397514618
MSV3drs397514618
GWAS Ctlgrs397514618
Max Magnitude0
ClinVar
Risk rs397514618(C;C)
Alt rs397514618(C;C)
Reference rs397514618(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene MIR7113 MIR4691 NDUFS8
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67800467G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033056.4,