rs748754134
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748754134(C;T) |
Make rs748754134(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 68033210 |
Gene | MIR4691, MIR7113, NDUFS8 |
is a | snp |
is | mentioned by |
dbSNP | rs748754134 |
dbSNP (classic) | rs748754134 |
ClinGen | rs748754134 |
ebi | rs748754134 |
HLI | rs748754134 |
Exac | rs748754134 |
Gnomad | rs748754134 |
Varsome | rs748754134 |
LitVar | rs748754134 |
Map | rs748754134 |
PheGenI | rs748754134 |
Biobank | rs748754134 |
1000 genomes | rs748754134 |
hgdp | rs748754134 |
ensembl | rs748754134 |
geneview | rs748754134 |
scholar | rs748754134 |
rs748754134 | |
pharmgkb | rs748754134 |
gwascentral | rs748754134 |
openSNP | rs748754134 |
23andMe | rs748754134 |
SNPshot | rs748754134 |
SNPdbe | rs748754134 |
MSV3d | rs748754134 |
GWAS Ctlg | rs748754134 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748754134(T;T) |
Alt | rs748754134(T;T) |
Reference | Rs748754134(C;C) |
Significance | Probable-Pathogenic |
Disease | Leigh syndrome Mitochondrial complex I deficiency not provided |
Variation | info |
Gene | MIR7113 MIR4691 NDUFS8 |
CLNDBN | Leigh syndrome Mitochondrial complex I deficiency not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.67800677C>T |
CLNSRC | |
CLNACC | RCV000307867.1, RCV000344135.1, RCV000490220.1, |