Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519086

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519086(A;G)
Make rs1057519086(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position95052177
GeneNDUFAF6
is asnp
is mentioned by
dbSNPrs1057519086
dbSNP (old)rs1057519086
ClinGenrs1057519086
ebirs1057519086
HLIrs1057519086
Exacrs1057519086
Gnomadrs1057519086
Varsomers1057519086
Maprs1057519086
PheGenIrs1057519086
Biobankrs1057519086
1000 genomesrs1057519086
hgdprs1057519086
ensemblrs1057519086
gopubmedrs1057519086
geneviewrs1057519086
scholarrs1057519086
googlers1057519086
pharmgkbrs1057519086
gwascentralrs1057519086
openSNPrs1057519086
23andMers1057519086
23andMe allrs1057519086
SNPshotrs1057519086
SNPdbers1057519086
MSV3drs1057519086
GWAS Ctlgrs1057519086
Max Magnitude0
ClinVar
Risk rs1057519086(G;G)
Alt rs1057519086(G;G)
Reference Rs1057519086(A;A)
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.96064405A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000412485.1,