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rs200800978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200800978(G;T)
Make rs200800978(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201085526
GeneNDUFB3
is asnp
is mentioned by
dbSNPrs200800978
ebirs200800978
HLIrs200800978
Exacrs200800978
Varsomers200800978
Maprs200800978
PheGenIrs200800978
hapmaprs200800978
1000 genomesrs200800978
hgdprs200800978
ensemblrs200800978
gopubmedrs200800978
geneviewrs200800978
scholarrs200800978
googlers200800978
pharmgkbrs200800978
gwascentralrs200800978
openSNPrs200800978
23andMers200800978
23andMe allrs200800978
SNP Nexus

SNPshotrs200800978
SNPdbers200800978
MSV3drs200800978
GWAS Ctlgrs200800978
Max Magnitude0
ClinVar
Risk rs200800978(T;T)
Alt rs200800978(T;T)
Reference rs200800978(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFB3
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000002.11:g.201950249G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033057.2,