rs483352778
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8.8 | Methylmalonic aciduria (predicted) |
(A;G) | 3 | Carrier for a methylmalonic aciduria mutation |
(G;G) | 0 | common/normal |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 49459144 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs483352778 |
dbSNP (classic) | rs483352778 |
ClinGen | rs483352778 |
ebi | rs483352778 |
HLI | rs483352778 |
Exac | rs483352778 |
Gnomad | rs483352778 |
Varsome | rs483352778 |
LitVar | rs483352778 |
Map | rs483352778 |
PheGenI | rs483352778 |
Biobank | rs483352778 |
1000 genomes | rs483352778 |
hgdp | rs483352778 |
ensembl | rs483352778 |
geneview | rs483352778 |
scholar | rs483352778 |
rs483352778 | |
pharmgkb | rs483352778 |
gwascentral | rs483352778 |
openSNP | rs483352778 |
23andMe | rs483352778 |
SNPshot | rs483352778 |
SNPdbe | rs483352778 |
MSV3d | rs483352778 |
GWAS Ctlg | rs483352778 |
Max Magnitude | 8.8 |
aka c.323G>A, p.Arg108His, R108H