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rs1057519084

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519084(C;C)
Make rs1057519084(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position95032023
GeneNDUFAF6
is asnp
is mentioned by
dbSNPrs1057519084
dbSNP (old)rs1057519084
ClinGenrs1057519084
ebirs1057519084
HLIrs1057519084
Exacrs1057519084
Gnomadrs1057519084
Varsomers1057519084
Maprs1057519084
PheGenIrs1057519084
Biobankrs1057519084
1000 genomesrs1057519084
hgdprs1057519084
ensemblrs1057519084
gopubmedrs1057519084
geneviewrs1057519084
scholarrs1057519084
googlers1057519084
pharmgkbrs1057519084
gwascentralrs1057519084
openSNPrs1057519084
23andMers1057519084
23andMe allrs1057519084
SNPshotrs1057519084
SNPdbers1057519084
MSV3drs1057519084
GWAS Ctlgrs1057519084
Max Magnitude0
ClinVar
Risk rs1057519084(C;C)
Alt rs1057519084(C;C)
Reference Rs1057519084(T;T)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFAF6
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000008.10:g.96044251T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412495.1,