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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
dbSNP (classic)rs1142530
ClinGenrs1142530
ebirs1142530
HLIrs1142530
Exacrs1142530
Gnomadrs1142530
Varsomers1142530
LitVarrs1142530
Maprs1142530
PheGenIrs1142530
Biobankrs1142530
1000 genomesrs1142530
hgdprs1142530
ensemblrs1142530
geneviewrs1142530
scholarrs1142530
googlers1142530
pharmgkbrs1142530
gwascentralrs1142530
openSNPrs1142530
23andMers1142530
23andMe allrs1142530
SNPshotrs1142530
SNPdbers1142530
MSV3drs1142530
GWAS Ctlgrs1142530
GMAF0.444
Max Magnitude0
? (C;C) (C;T) (T;T) 28



[PMID 16436204OA-icon.png] GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease.



ClinVar
Risk rs1142530(T;T)
Alt rs1142530(T;T)
Reference Rs1142530(C;C)
Significance Probable-non-pathogenic
Disease not specified Leigh syndrome Mitochondrial complex I deficiency
Variation info
Gene NDUFS7
CLNDBN not specified Leigh syndrome Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000019.9:g.1388538C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000117716.2, RCV000342300.1, RCV000407392.1,