rs111257462
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111257462(C;C) |
Make rs111257462(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 107891290 |
Gene | DLD |
is a | snp |
is | mentioned by |
dbSNP | rs111257462 |
dbSNP (classic) | rs111257462 |
ClinGen | rs111257462 |
ebi | rs111257462 |
HLI | rs111257462 |
Exac | rs111257462 |
Gnomad | rs111257462 |
Varsome | rs111257462 |
LitVar | rs111257462 |
Map | rs111257462 |
PheGenI | rs111257462 |
Biobank | rs111257462 |
1000 genomes | rs111257462 |
hgdp | rs111257462 |
ensembl | rs111257462 |
geneview | rs111257462 |
scholar | rs111257462 |
rs111257462 | |
pharmgkb | rs111257462 |
gwascentral | rs111257462 |
openSNP | rs111257462 |
23andMe | rs111257462 |
SNPshot | rs111257462 |
SNPdbe | rs111257462 |
MSV3d | rs111257462 |
GWAS Ctlg | rs111257462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111257462(A;A) rs111257462(C;C) |
Alt | rs111257462(A;A) rs111257462(C;C) |
Reference | Rs111257462(G;G) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DLD |
CLNDBN | Maple syrup urine disease, type 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.107531735G>A |
CLNSRC | |
CLNACC | RCV000411628.1, |