rs139430866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139430866(C;T) |
Make rs139430866(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 158652154 |
Gene | GFM1 |
is a | snp |
is | mentioned by |
dbSNP | rs139430866 |
dbSNP (classic) | rs139430866 |
ClinGen | rs139430866 |
ebi | rs139430866 |
HLI | rs139430866 |
Exac | rs139430866 |
Gnomad | rs139430866 |
Varsome | rs139430866 |
LitVar | rs139430866 |
Map | rs139430866 |
PheGenI | rs139430866 |
Biobank | rs139430866 |
1000 genomes | rs139430866 |
hgdp | rs139430866 |
ensembl | rs139430866 |
geneview | rs139430866 |
scholar | rs139430866 |
rs139430866 | |
pharmgkb | rs139430866 |
gwascentral | rs139430866 |
openSNP | rs139430866 |
23andMe | rs139430866 |
SNPshot | rs139430866 |
SNPdbe | rs139430866 |
MSV3d | rs139430866 |
GWAS Ctlg | rs139430866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139430866(T;T) |
Alt | rs139430866(T;T) |
Reference | Rs139430866(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 1 |
Variation | info |
Gene | GFM1 |
CLNDBN | Combined oxidative phosphorylation deficiency 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.158369943C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023564.3, |