rs398123277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
Make rs398123277(-;-) |
Make rs398123277(-;CTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 49440308 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs398123277 |
dbSNP (classic) | rs398123277 |
ClinGen | rs398123277 |
ebi | rs398123277 |
HLI | rs398123277 |
Exac | rs398123277 |
Gnomad | rs398123277 |
Varsome | rs398123277 |
LitVar | rs398123277 |
Map | rs398123277 |
PheGenI | rs398123277 |
Biobank | rs398123277 |
1000 genomes | rs398123277 |
hgdp | rs398123277 |
ensembl | rs398123277 |
geneview | rs398123277 |
scholar | rs398123277 |
rs398123277 | |
pharmgkb | rs398123277 |
gwascentral | rs398123277 |
openSNP | rs398123277 |
23andMe | rs398123277 |
SNPshot | rs398123277 |
SNPdbe | rs398123277 |
MSV3d | rs398123277 |
GWAS Ctlg | rs398123277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123277(-;-) |
Alt | rs398123277(-;-) |
Reference | Rs398123277(CTT;CTT) |
Significance | Pathogenic |
Disease | not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Variation | info |
Gene | MUT |
CLNDBN | not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
Reversed | 1 |
HGVS | NC_000006.11:g.49408021_49408023delAAG |
CLNSRC | |
CLNACC | RCV000078442.4, RCV000210829.1, |