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rs387907199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907199(A;G)
Make rs387907199(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position206127898
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs387907199
ebirs387907199
HLIrs387907199
Exacrs387907199
Varsomers387907199
Maprs387907199
PheGenIrs387907199
hapmaprs387907199
1000 genomesrs387907199
hgdprs387907199
ensemblrs387907199
gopubmedrs387907199
geneviewrs387907199
scholarrs387907199
googlers387907199
pharmgkbrs387907199
gwascentralrs387907199
openSNPrs387907199
23andMers387907199
23andMe allrs387907199
SNP Nexus

SNPshotrs387907199
SNPdbers387907199
MSV3drs387907199
GWAS Ctlgrs387907199
Max Magnitude0
ClinVar
Risk rs387907199(G;G)
Alt rs387907199(G;G)
Reference rs387907199(A;A)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.206992622T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024604.26,