rs772552898
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8.8 | Methylmalonic aciduria (predicted) |
(A;G) | 3 | Carrier for a methylmalonic aciduria mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 49451693 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs772552898 |
dbSNP (classic) | rs772552898 |
ClinGen | rs772552898 |
ebi | rs772552898 |
HLI | rs772552898 |
Exac | rs772552898 |
Gnomad | rs772552898 |
Varsome | rs772552898 |
LitVar | rs772552898 |
Map | rs772552898 |
PheGenI | rs772552898 |
Biobank | rs772552898 |
1000 genomes | rs772552898 |
hgdp | rs772552898 |
ensembl | rs772552898 |
geneview | rs772552898 |
scholar | rs772552898 |
rs772552898 | |
pharmgkb | rs772552898 |
gwascentral | rs772552898 |
openSNP | rs772552898 |
23andMe | rs772552898 |
SNPshot | rs772552898 |
SNPdbe | rs772552898 |
MSV3d | rs772552898 |
GWAS Ctlg | rs772552898 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs772552898(A;A) |
Alt | Rs772552898(A;A) |
Reference | Rs772552898(G;G) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency not provided |
Variation | info |
Gene | MUT |
CLNDBN | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.49419406G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000203377.1, RCV000414057.1, |