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rs1142530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1142530(C;T)
Make rs1142530(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1388539
GeneNDUFS7
is asnp
is mentioned by
dbSNPrs1142530
ebirs1142530
HLIrs1142530
Exacrs1142530
Varsomers1142530
Maprs1142530
PheGenIrs1142530
hapmaprs1142530
1000 genomesrs1142530
hgdprs1142530
ensemblrs1142530
gopubmedrs1142530
geneviewrs1142530
scholarrs1142530
googlers1142530
pharmgkbrs1142530
gwascentralrs1142530
openSNPrs1142530
23andMers1142530
23andMe allrs1142530
SNP Nexus

SNPshotrs1142530
SNPdbers1142530
MSV3drs1142530
GWAS Ctlgrs1142530
GMAF0.444
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene NDUFS7
allele T
frequency
sift TOLERATED
HuRef 1103691070511
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
Distance526
[PMID 16436204OA-icon.png] GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease.


GET Evidence
NDUFS7-P23L
aa_change Pro23Leu
aa_change_short P23L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.538047
summary



ClinVar
Risk rs1142530(T;T)
Alt rs1142530(T;T)
Reference rs1142530(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene NDUFS7
CLNDBN not specified
Reversed 0
HGVS NC_000019.9:g.1388538C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000117716.2,