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rs748754134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748754134(C;T)
Make rs748754134(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68033210
GeneMIR4691, MIR7113, NDUFS8
is asnp
is mentioned by
dbSNPrs748754134
dbSNP (classic)rs748754134
ClinGenrs748754134
ebirs748754134
HLIrs748754134
Exacrs748754134
Gnomadrs748754134
Varsomers748754134
LitVarrs748754134
Maprs748754134
PheGenIrs748754134
Biobankrs748754134
1000 genomesrs748754134
hgdprs748754134
ensemblrs748754134
geneviewrs748754134
scholarrs748754134
googlers748754134
pharmgkbrs748754134
gwascentralrs748754134
openSNPrs748754134
23andMers748754134
23andMe allrs748754134
SNPshotrs748754134
SNPdbers748754134
MSV3drs748754134
GWAS Ctlgrs748754134
Max Magnitude0
ClinVar
Risk rs748754134(T;T)
Alt rs748754134(T;T)
Reference Rs748754134(C;C)
Significance Probable-Pathogenic
Disease Leigh syndrome Mitochondrial complex I deficiency not provided
Variation info
Gene MIR7113 MIR4691 NDUFS8
CLNDBN Leigh syndrome Mitochondrial complex I deficiency not provided
Reversed 0
HGVS NC_000011.9:g.67800677C>T
CLNSRC
CLNACC RCV000307867.1, RCV000344135.1, RCV000490220.1,