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rs11666067

From SNPedia

Orientationplus
Stabilizedplus
Make rs11666067(A;A)
Make rs11666067(A;C)
Make rs11666067(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position1389518
GeneNDUFS7
is asnp
is mentioned by
dbSNPrs11666067
ebirs11666067
HLIrs11666067
Exacrs11666067
Varsomers11666067
Maprs11666067
PheGenIrs11666067
hapmaprs11666067
1000 genomesrs11666067
hgdprs11666067
ensemblrs11666067
gopubmedrs11666067
geneviewrs11666067
scholarrs11666067
googlers11666067
pharmgkbrs11666067
gwascentralrs11666067
openSNPrs11666067
23andMers11666067
23andMe allrs11666067
SNP Nexus

SNPshotrs11666067
SNPdbers11666067
MSV3drs11666067
GWAS Ctlgrs11666067
GMAF0.4495
Max Magnitude
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene NDUFS7
allele A
frequency 0.543
sift
HuRef 1103691070517
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.



Neighborrs7258846
Distance453