rs761773115
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 | 49459448 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs761773115 |
dbSNP (classic) | rs761773115 |
ClinGen | rs761773115 |
ebi | rs761773115 |
HLI | rs761773115 |
Exac | rs761773115 |
Gnomad | rs761773115 |
Varsome | rs761773115 |
LitVar | rs761773115 |
Map | rs761773115 |
PheGenI | rs761773115 |
Biobank | rs761773115 |
1000 genomes | rs761773115 |
hgdp | rs761773115 |
ensembl | rs761773115 |
geneview | rs761773115 |
scholar | rs761773115 |
rs761773115 | |
pharmgkb | rs761773115 |
gwascentral | rs761773115 |
openSNP | rs761773115 |
23andMe | rs761773115 |
SNPshot | rs761773115 |
SNPdbe | rs761773115 |
MSV3d | rs761773115 |
GWAS Ctlg | rs761773115 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs761773115(A;A) |
Alt | Rs761773115(A;A) |
Reference | Rs761773115(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 | 0 |
HGVS | NC_000006.11:g.49427161G>A |
CLNSRC | |
CLNACC | RCV000203322.2, |