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rs1801316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801316(C;C)
Make rs1801316(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position119872005
GeneNDUFA1, RNF113A
is asnp
is mentioned by
dbSNPrs1801316
ebirs1801316
HLIrs1801316
Exacrs1801316
Varsomers1801316
Maprs1801316
PheGenIrs1801316
hapmaprs1801316
1000 genomesrs1801316
hgdprs1801316
ensemblrs1801316
gopubmedrs1801316
geneviewrs1801316
scholarrs1801316
googlers1801316
pharmgkbrs1801316
gwascentralrs1801316
openSNPrs1801316
23andMers1801316
23andMe allrs1801316
SNP Nexus

SNPshotrs1801316
SNPdbers1801316
MSV3drs1801316
GWAS Ctlgrs1801316
Max Magnitude0
ClinVar
Risk rs1801316(A,C;A,C)
Alt rs1801316(A,C;A,C)
Reference rs1801316(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not specified
Variation info
Gene RNF113A NDUFA1
CLNDBN Mitochondrial complex I deficiency not specified
Reversed 0
HGVS NC_000023.10:g.119005968G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030653.22, RCV000173348.3,