rs118203929
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203929(C;C) |
Make rs118203929(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 13801652 |
Gene | NDUFAF5 |
is a | snp |
is | mentioned by |
dbSNP | rs118203929 |
dbSNP (old) | rs118203929 |
ClinGen | rs118203929 |
ebi | rs118203929 |
HLI | rs118203929 |
Exac | rs118203929 |
Gnomad | rs118203929 |
Varsome | rs118203929 |
Map | rs118203929 |
PheGenI | rs118203929 |
Biobank | rs118203929 |
1000 genomes | rs118203929 |
hgdp | rs118203929 |
ensembl | rs118203929 |
gopubmed | rs118203929 |
geneview | rs118203929 |
scholar | rs118203929 |
rs118203929 | |
pharmgkb | rs118203929 |
gwascentral | rs118203929 |
openSNP | rs118203929 |
23andMe | rs118203929 |
23andMe all | rs118203929 |
SNPshot | rs118203929 |
SNPdbe | rs118203929 |
MSV3d | rs118203929 |
GWAS Ctlg | rs118203929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203929(C;C) |
Alt | rs118203929(C;C) |
Reference | Rs118203929(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency |
Variation | info |
Gene | NDUFAF5 |
CLNDBN | Mitochondrial complex I deficiency |
Reversed | 0 |
HGVS | NC_000020.10:g.13782298T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000600.3, |