rs146766138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146766138(C;T) |
Make rs146766138(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68033140 |
Gene | MIR4691, MIR7113, NDUFS8 |
is a | snp |
is | mentioned by |
dbSNP | rs146766138 |
dbSNP (classic) | rs146766138 |
ClinGen | rs146766138 |
ebi | rs146766138 |
HLI | rs146766138 |
Exac | rs146766138 |
Gnomad | rs146766138 |
Varsome | rs146766138 |
LitVar | rs146766138 |
Map | rs146766138 |
PheGenI | rs146766138 |
Biobank | rs146766138 |
1000 genomes | rs146766138 |
hgdp | rs146766138 |
ensembl | rs146766138 |
geneview | rs146766138 |
scholar | rs146766138 |
rs146766138 | |
pharmgkb | rs146766138 |
gwascentral | rs146766138 |
openSNP | rs146766138 |
23andMe | rs146766138 |
SNPshot | rs146766138 |
SNPdbe | rs146766138 |
MSV3d | rs146766138 |
GWAS Ctlg | rs146766138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146766138(G;G) rs146766138(T;T) |
Alt | rs146766138(G;G) rs146766138(T;T) |
Reference | Rs146766138(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency |
Variation | info |
Gene | MIR7113 MIR4691 NDUFS8 |
CLNDBN | Mitochondrial complex I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.67800607C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033054.2, |