rs761477436
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761477436(A;A) |
Make rs761477436(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 49456141 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs761477436 |
dbSNP (classic) | rs761477436 |
ClinGen | rs761477436 |
ebi | rs761477436 |
HLI | rs761477436 |
Exac | rs761477436 |
Gnomad | rs761477436 |
Varsome | rs761477436 |
LitVar | rs761477436 |
Map | rs761477436 |
PheGenI | rs761477436 |
Biobank | rs761477436 |
1000 genomes | rs761477436 |
hgdp | rs761477436 |
ensembl | rs761477436 |
geneview | rs761477436 |
scholar | rs761477436 |
rs761477436 | |
pharmgkb | rs761477436 |
gwascentral | rs761477436 |
openSNP | rs761477436 |
23andMe | rs761477436 |
SNPshot | rs761477436 |
SNPdbe | rs761477436 |
MSV3d | rs761477436 |
GWAS Ctlg | rs761477436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761477436(A;A) rs761477436(T;T) |
Alt | rs761477436(A;A) rs761477436(T;T) |
Reference | Rs761477436(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.49423854C>T |
CLNSRC | |
CLNACC | RCV000235506.1, |