rs863224898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224898(-;-) |
Make rs863224898(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 49440271 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs863224898 |
dbSNP (classic) | rs863224898 |
ClinGen | rs863224898 |
ebi | rs863224898 |
HLI | rs863224898 |
Exac | rs863224898 |
Gnomad | rs863224898 |
Varsome | rs863224898 |
LitVar | rs863224898 |
Map | rs863224898 |
PheGenI | rs863224898 |
Biobank | rs863224898 |
1000 genomes | rs863224898 |
hgdp | rs863224898 |
ensembl | rs863224898 |
geneview | rs863224898 |
scholar | rs863224898 |
rs863224898 | |
pharmgkb | rs863224898 |
gwascentral | rs863224898 |
openSNP | rs863224898 |
23andMe | rs863224898 |
SNPshot | rs863224898 |
SNPdbe | rs863224898 |
MSV3d | rs863224898 |
GWAS Ctlg | rs863224898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224898(-;-) |
Alt | rs863224898(-;-) |
Reference | Rs863224898(G;G) |
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 | 1 |
HGVS | NC_000006.11:g.49407984delC |
CLNSRC | |
CLNACC | RCV000197802.1, |