rs200908035
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200908035(C;C) |
Make rs200908035(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 49457878 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs200908035 |
dbSNP (classic) | rs200908035 |
ClinGen | rs200908035 |
ebi | rs200908035 |
HLI | rs200908035 |
Exac | rs200908035 |
Gnomad | rs200908035 |
Varsome | rs200908035 |
LitVar | rs200908035 |
Map | rs200908035 |
PheGenI | rs200908035 |
Biobank | rs200908035 |
1000 genomes | rs200908035 |
hgdp | rs200908035 |
ensembl | rs200908035 |
geneview | rs200908035 |
scholar | rs200908035 |
rs200908035 | |
pharmgkb | rs200908035 |
gwascentral | rs200908035 |
openSNP | rs200908035 |
23andMe | rs200908035 |
SNPshot | rs200908035 |
SNPdbe | rs200908035 |
MSV3d | rs200908035 |
GWAS Ctlg | rs200908035 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200908035(A;A) rs200908035(C;C) |
Alt | rs200908035(A;A) rs200908035(C;C) |
Reference | Rs200908035(T;T) |
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.49425591T>A |
CLNSRC | |
CLNACC | RCV000236505.1, |