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rs199422225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422225(C;T)
Make rs199422225(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position206146919
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs199422225
ebirs199422225
HLIrs199422225
Exacrs199422225
Varsomers199422225
Maprs199422225
PheGenIrs199422225
hapmaprs199422225
1000 genomesrs199422225
hgdprs199422225
ensemblrs199422225
gopubmedrs199422225
geneviewrs199422225
scholarrs199422225
googlers199422225
pharmgkbrs199422225
gwascentralrs199422225
openSNPrs199422225
23andMers199422225
23andMe allrs199422225
SNP Nexus

SNPshotrs199422225
SNPdbers199422225
MSV3drs199422225
GWAS Ctlgrs199422225
Max Magnitude0
ClinVar
Risk rs199422225(T;T)
Alt rs199422225(T;T)
Reference rs199422225(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.207011643G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015300.25,