rs864309734
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier for a methylmalonic aciduria mutation |
(T;T) | 8.8 | Methylmalonic aciduria (predicted) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 49453733 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs864309734 |
dbSNP (classic) | rs864309734 |
ClinGen | rs864309734 |
ebi | rs864309734 |
HLI | rs864309734 |
Exac | rs864309734 |
Gnomad | rs864309734 |
Varsome | rs864309734 |
LitVar | rs864309734 |
Map | rs864309734 |
PheGenI | rs864309734 |
Biobank | rs864309734 |
1000 genomes | rs864309734 |
hgdp | rs864309734 |
ensembl | rs864309734 |
geneview | rs864309734 |
scholar | rs864309734 |
rs864309734 | |
pharmgkb | rs864309734 |
gwascentral | rs864309734 |
openSNP | rs864309734 |
23andMe | rs864309734 |
SNPshot | rs864309734 |
SNPdbe | rs864309734 |
MSV3d | rs864309734 |
GWAS Ctlg | rs864309734 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs864309734(T;T) |
Alt | Rs864309734(T;T) |
Reference | Rs864309734(G;G) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Variation | info |
Gene | MUT |
CLNDBN | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Reversed | 1 |
HGVS | NC_000006.11:g.49421446C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000203346.1, |