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

rs397515383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
Make rs397515383(-;-)
Make rs397515383(-;CAT)
ReferenceGRCh38 38.1/141
Chromosome2
Position206146972
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs397515383
ebirs397515383
HLIrs397515383
Exacrs397515383
Varsomers397515383
Maprs397515383
PheGenIrs397515383
hapmaprs397515383
1000 genomesrs397515383
hgdprs397515383
ensemblrs397515383
gopubmedrs397515383
geneviewrs397515383
scholarrs397515383
googlers397515383
pharmgkbrs397515383
gwascentralrs397515383
openSNPrs397515383
23andMers397515383
23andMe allrs397515383
SNP Nexus

SNPshotrs397515383
SNPdbers397515383
MSV3drs397515383
GWAS Ctlgrs397515383
Max Magnitude0
ClinVar
Risk rs397515383(;)
Alt rs397515383(;)
Reference rs397515383(CAT;CAT)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.207011696_207011698delATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015298.25,