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rs397515447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515447(A;A)
Make rs397515447(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position206127826
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs397515447
ebirs397515447
HLIrs397515447
Exacrs397515447
Varsomers397515447
Maprs397515447
PheGenIrs397515447
hapmaprs397515447
1000 genomesrs397515447
hgdprs397515447
ensemblrs397515447
gopubmedrs397515447
geneviewrs397515447
scholarrs397515447
googlers397515447
pharmgkbrs397515447
gwascentralrs397515447
openSNPrs397515447
23andMers397515447
23andMe allrs397515447
SNP Nexus

SNPshotrs397515447
SNPdbers397515447
MSV3drs397515447
GWAS Ctlgrs397515447
Max Magnitude0
ClinVar
Risk rs397515447(A;A)
Alt rs397515447(A;A)
Reference rs397515447(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.206992550C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043634.26,