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rs104894885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894885(C;C)
Make rs104894885(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position119873312
GeneNDUFA1, RNF113A
is asnp
is mentioned by
dbSNPrs104894885
ebirs104894885
HLIrs104894885
Exacrs104894885
Varsomers104894885
Maprs104894885
PheGenIrs104894885
hapmaprs104894885
1000 genomesrs104894885
hgdprs104894885
ensemblrs104894885
gopubmedrs104894885
geneviewrs104894885
scholarrs104894885
googlers104894885
pharmgkbrs104894885
gwascentralrs104894885
openSNPrs104894885
23andMers104894885
23andMe allrs104894885
SNP Nexus

SNPshotrs104894885
SNPdbers104894885
MSV3drs104894885
GWAS Ctlgrs104894885
Max Magnitude0
OMIM300078
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894885(A,C;A,C)
Alt rs104894885(A,C;A,C)
Reference rs104894885(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene RNF113A NDUFA1
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000023.10:g.119007275G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012415.16,