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rs1057519414

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519414(C;C)
Make rs1057519414(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position240005219
GeneNDUFA10
is asnp
is mentioned by
dbSNPrs1057519414
dbSNP (old)rs1057519414
ClinGenrs1057519414
ebirs1057519414
HLIrs1057519414
Exacrs1057519414
Gnomadrs1057519414
Varsomers1057519414
Maprs1057519414
PheGenIrs1057519414
Biobankrs1057519414
1000 genomesrs1057519414
hgdprs1057519414
ensemblrs1057519414
gopubmedrs1057519414
geneviewrs1057519414
scholarrs1057519414
googlers1057519414
pharmgkbrs1057519414
gwascentralrs1057519414
openSNPrs1057519414
23andMers1057519414
23andMe allrs1057519414
SNPshotrs1057519414
SNPdbers1057519414
MSV3drs1057519414
GWAS Ctlgrs1057519414
Max Magnitude0
ClinVar
Risk rs1057519414(C;C)
Alt rs1057519414(C;C)
Reference Rs1057519414(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFA10
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.240944636A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000412613.1,