rs747777227
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs747777227(-;T) |
Make rs747777227(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 49457751 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs747777227 |
dbSNP (classic) | rs747777227 |
ClinGen | rs747777227 |
ebi | rs747777227 |
HLI | rs747777227 |
Exac | rs747777227 |
Gnomad | rs747777227 |
Varsome | rs747777227 |
LitVar | rs747777227 |
Map | rs747777227 |
PheGenI | rs747777227 |
Biobank | rs747777227 |
1000 genomes | rs747777227 |
hgdp | rs747777227 |
ensembl | rs747777227 |
geneview | rs747777227 |
scholar | rs747777227 |
rs747777227 | |
pharmgkb | rs747777227 |
gwascentral | rs747777227 |
openSNP | rs747777227 |
23andMe | rs747777227 |
SNPshot | rs747777227 |
SNPdbe | rs747777227 |
MSV3d | rs747777227 |
GWAS Ctlg | rs747777227 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747777227(T;T) |
Alt | rs747777227(T;T) |
Reference | Rs747777227(-;-) |
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.49425465dupT |
CLNSRC | |
CLNACC | RCV000235526.1, |