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rs1057519085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519085(A;T)
Make rs1057519085(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position95032003
GeneNDUFAF6
is asnp
is mentioned by
dbSNPrs1057519085
dbSNP (old)rs1057519085
ClinGenrs1057519085
ebirs1057519085
HLIrs1057519085
Exacrs1057519085
Gnomadrs1057519085
Varsomers1057519085
Maprs1057519085
PheGenIrs1057519085
Biobankrs1057519085
1000 genomesrs1057519085
hgdprs1057519085
ensemblrs1057519085
gopubmedrs1057519085
geneviewrs1057519085
scholarrs1057519085
googlers1057519085
pharmgkbrs1057519085
gwascentralrs1057519085
openSNPrs1057519085
23andMers1057519085
23andMe allrs1057519085
SNPshotrs1057519085
SNPdbers1057519085
MSV3drs1057519085
GWAS Ctlgrs1057519085
Max Magnitude0
ClinVar
Risk rs1057519085(T;T)
Alt rs1057519085(T;T)
Reference Rs1057519085(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.96044231A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412636.1,