rs201559874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201559874(C;C) |
Make rs201559874(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 100216030 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs201559874 |
dbSNP (classic) | rs201559874 |
ClinGen | rs201559874 |
ebi | rs201559874 |
HLI | rs201559874 |
Exac | rs201559874 |
Gnomad | rs201559874 |
Varsome | rs201559874 |
LitVar | rs201559874 |
Map | rs201559874 |
PheGenI | rs201559874 |
Biobank | rs201559874 |
1000 genomes | rs201559874 |
hgdp | rs201559874 |
ensembl | rs201559874 |
geneview | rs201559874 |
scholar | rs201559874 |
rs201559874 | |
pharmgkb | rs201559874 |
gwascentral | rs201559874 |
openSNP | rs201559874 |
23andMe | rs201559874 |
SNPshot | rs201559874 |
SNPdbe | rs201559874 |
MSV3d | rs201559874 |
GWAS Ctlg | rs201559874 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201559874(C;C) rs201559874(T;T) |
Alt | rs201559874(C;C) rs201559874(T;T) |
Reference | Rs201559874(G;G) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DBT |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000001.10:g.100681586G>C |
CLNSRC | |
CLNACC | RCV000409585.1, |