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rs199422224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422224(A;G)
Make rs199422224(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position206145009
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs199422224
ebirs199422224
HLIrs199422224
Exacrs199422224
Varsomers199422224
Maprs199422224
PheGenIrs199422224
hapmaprs199422224
1000 genomesrs199422224
hgdprs199422224
ensemblrs199422224
gopubmedrs199422224
geneviewrs199422224
scholarrs199422224
googlers199422224
pharmgkbrs199422224
gwascentralrs199422224
openSNPrs199422224
23andMers199422224
23andMe allrs199422224
SNP Nexus

SNPshotrs199422224
SNPdbers199422224
MSV3drs199422224
GWAS Ctlgrs199422224
Max Magnitude0
ClinVar
Risk rs199422224(G;G)
Alt rs199422224(G;G)
Reference rs199422224(A;A)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not provided
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency not provided
Reversed 1
HGVS NC_000002.11:g.207009733T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015299.26, RCV000198207.1,