rs753564352
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs753564352(C;T) |
Make rs753564352(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 49444652 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs753564352 |
dbSNP (classic) | rs753564352 |
ClinGen | rs753564352 |
ebi | rs753564352 |
HLI | rs753564352 |
Exac | rs753564352 |
Gnomad | rs753564352 |
Varsome | rs753564352 |
LitVar | rs753564352 |
Map | rs753564352 |
PheGenI | rs753564352 |
Biobank | rs753564352 |
1000 genomes | rs753564352 |
hgdp | rs753564352 |
ensembl | rs753564352 |
geneview | rs753564352 |
scholar | rs753564352 |
rs753564352 | |
pharmgkb | rs753564352 |
gwascentral | rs753564352 |
openSNP | rs753564352 |
23andMe | rs753564352 |
SNPshot | rs753564352 |
SNPdbe | rs753564352 |
MSV3d | rs753564352 |
GWAS Ctlg | rs753564352 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753564352(T;T) |
Alt | rs753564352(T;T) |
Reference | Rs753564352(C;C) |
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.49412365C>T |
CLNSRC | |
CLNACC | RCV000186050.1, RCV000210837.1, |