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rs7258846

From SNPedia

Orientationplus
Stabilizedplus
Make rs7258846(G;G)
Make rs7258846(G;T)
Make rs7258846(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1389065
GeneNDUFS7
is asnp
is mentioned by
dbSNPrs7258846
ebirs7258846
HLIrs7258846
Exacrs7258846
Varsomers7258846
Maprs7258846
PheGenIrs7258846
hapmaprs7258846
1000 genomesrs7258846
hgdprs7258846
ensemblrs7258846
gopubmedrs7258846
geneviewrs7258846
scholarrs7258846
googlers7258846
pharmgkbrs7258846
gwascentralrs7258846
openSNPrs7258846
23andMers7258846
23andMe allrs7258846
SNP Nexus

SNPshotrs7258846
SNPdbers7258846
MSV3drs7258846
GWAS Ctlgrs7258846
GMAF0.4449
Max Magnitude
Venter snp
Source plos
Gene NDUFS7
allele T
frequency
sift TOLERATED
HuRef 1103691070512
Disease Association Defects in NDUFS7 are a cause of complex I mitochondrial respiratory chain deficiency (MIM:252010). Complex I (NADH- ubiquinone oxidoreductase), the largest complex of the mitochondrial respiratory chain, contains more than 40 subunits. It is embedded in the inner mitochondrial membrane and is partly protruding in the matrix. Complex I deficiency is the most common cause of mitochondrial disorders. It represents largely one-third of all cases of respiratory chain deficiency and is responsible for a variety of clinical symptoms, ranging from neurological disorders to cardiomyopathy, liver failure, and myopathy.


Neighborrs1142530
Distance526
Neighborrs11666067
Distance453