rs752898811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;T) | 3 | Carrier for a methylmalonic aciduria mutation |
(T;T) | 8.8 | Methylmalonic aciduria (predicted) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 49453645 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs752898811 |
dbSNP (classic) | rs752898811 |
ClinGen | rs752898811 |
ebi | rs752898811 |
HLI | rs752898811 |
Exac | rs752898811 |
Gnomad | rs752898811 |
Varsome | rs752898811 |
LitVar | rs752898811 |
Map | rs752898811 |
PheGenI | rs752898811 |
Biobank | rs752898811 |
1000 genomes | rs752898811 |
hgdp | rs752898811 |
ensembl | rs752898811 |
geneview | rs752898811 |
scholar | rs752898811 |
rs752898811 | |
pharmgkb | rs752898811 |
gwascentral | rs752898811 |
openSNP | rs752898811 |
23andMe | rs752898811 |
SNPshot | rs752898811 |
SNPdbe | rs752898811 |
MSV3d | rs752898811 |
GWAS Ctlg | rs752898811 |
Max Magnitude | 8.8 |
aka c.1022dupA, p.Asn341fs; mutation observed in Hispanics