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rs372691318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372691318(A;A)
Make rs372691318(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position206130127
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs372691318
ebirs372691318
HLIrs372691318
Exacrs372691318
Varsomers372691318
Maprs372691318
PheGenIrs372691318
hapmaprs372691318
1000 genomesrs372691318
hgdprs372691318
ensemblrs372691318
gopubmedrs372691318
geneviewrs372691318
scholarrs372691318
googlers372691318
pharmgkbrs372691318
gwascentralrs372691318
openSNPrs372691318
23andMers372691318
23andMe allrs372691318
SNP Nexus

SNPshotrs372691318
SNPdbers372691318
MSV3drs372691318
GWAS Ctlgrs372691318
Max Magnitude0
ClinVar
Risk rs372691318(A;A)
Alt rs372691318(A;A)
Reference rs372691318(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS1
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000002.11:g.206994851G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043635.22,