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

rs199592341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199592341(A;A)
Make rs199592341(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4685324
GeneNDUFA9
is asnp
is mentioned by
dbSNPrs199592341
ebirs199592341
HLIrs199592341
Exacrs199592341
Varsomers199592341
Maprs199592341
PheGenIrs199592341
hapmaprs199592341
1000 genomesrs199592341
hgdprs199592341
ensemblrs199592341
gopubmedrs199592341
geneviewrs199592341
scholarrs199592341
googlers199592341
pharmgkbrs199592341
gwascentralrs199592341
openSNPrs199592341
23andMers199592341
23andMe allrs199592341
SNP Nexus

SNPshotrs199592341
SNPdbers199592341
MSV3drs199592341
GWAS Ctlgrs199592341
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199592341(A,C;A,C)
Alt rs199592341(A,C;A,C)
Reference rs199592341(G;G)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFA9
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000012.11:g.4794490G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023344.2,