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rs201430951

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201430951(C;C)
Make rs201430951(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position31599308
GeneNUBPL
is asnp
is mentioned by
dbSNPrs201430951
ebirs201430951
HLIrs201430951
Exacrs201430951
Varsomers201430951
Maprs201430951
PheGenIrs201430951
hapmaprs201430951
1000 genomesrs201430951
hgdprs201430951
ensemblrs201430951
gopubmedrs201430951
geneviewrs201430951
scholarrs201430951
googlers201430951
pharmgkbrs201430951
gwascentralrs201430951
openSNPrs201430951
23andMers201430951
23andMe allrs201430951
SNP Nexus

SNPshotrs201430951
SNPdbers201430951
MSV3drs201430951
GWAS Ctlgrs201430951
Max Magnitude0
ClinVar
Risk rs201430951(C;C)
Alt rs201430951(C;C)
Reference rs201430951(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency Inborn genetic diseases
Variation info
Gene NUBPL
CLNDBN Mitochondrial complex I deficiency Inborn genetic diseases
Reversed 0
HGVS NC_000014.8:g.32068514T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191115.1, RCV000210568.1,