rs368790885
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs368790885(G;G) |
Make rs368790885(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 49451690 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs368790885 |
dbSNP (classic) | rs368790885 |
ClinGen | rs368790885 |
ebi | rs368790885 |
HLI | rs368790885 |
Exac | rs368790885 |
Gnomad | rs368790885 |
Varsome | rs368790885 |
LitVar | rs368790885 |
Map | rs368790885 |
PheGenI | rs368790885 |
Biobank | rs368790885 |
1000 genomes | rs368790885 |
hgdp | rs368790885 |
ensembl | rs368790885 |
geneview | rs368790885 |
scholar | rs368790885 |
rs368790885 | |
pharmgkb | rs368790885 |
gwascentral | rs368790885 |
openSNP | rs368790885 |
23andMe | rs368790885 |
SNPshot | rs368790885 |
SNPdbe | rs368790885 |
MSV3d | rs368790885 |
GWAS Ctlg | rs368790885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368790885(G;G) |
Alt | rs368790885(G;G) |
Reference | Rs368790885(T;T) |
Significance | Pathogenic |
Disease | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Variation | info |
Gene | MUT |
CLNDBN | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.49419403T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186047.2, RCV000286464.1, |