rs533755473
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs533755473(C;G) |
Make rs533755473(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 49451521 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs533755473 |
dbSNP (classic) | rs533755473 |
ClinGen | rs533755473 |
ebi | rs533755473 |
HLI | rs533755473 |
Exac | rs533755473 |
Gnomad | rs533755473 |
Varsome | rs533755473 |
LitVar | rs533755473 |
Map | rs533755473 |
PheGenI | rs533755473 |
Biobank | rs533755473 |
1000 genomes | rs533755473 |
hgdp | rs533755473 |
ensembl | rs533755473 |
geneview | rs533755473 |
scholar | rs533755473 |
rs533755473 | |
pharmgkb | rs533755473 |
gwascentral | rs533755473 |
openSNP | rs533755473 |
23andMe | rs533755473 |
SNPshot | rs533755473 |
SNPdbe | rs533755473 |
MSV3d | rs533755473 |
GWAS Ctlg | rs533755473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs533755473(G;G) rs533755473(T;T) |
Alt | rs533755473(G;G) rs533755473(T;T) |
Reference | Rs533755473(C;C) |
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.49419234C>T |
CLNSRC | |
CLNACC | RCV000236497.1, |