rs863225262
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863225262(A;T) |
Make rs863225262(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41424468 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs863225262 |
dbSNP (classic) | rs863225262 |
ClinGen | rs863225262 |
ebi | rs863225262 |
HLI | rs863225262 |
Exac | rs863225262 |
Gnomad | rs863225262 |
Varsome | rs863225262 |
LitVar | rs863225262 |
Map | rs863225262 |
PheGenI | rs863225262 |
Biobank | rs863225262 |
1000 genomes | rs863225262 |
hgdp | rs863225262 |
ensembl | rs863225262 |
geneview | rs863225262 |
scholar | rs863225262 |
rs863225262 | |
pharmgkb | rs863225262 |
gwascentral | rs863225262 |
openSNP | rs863225262 |
23andMe | rs863225262 |
SNPshot | rs863225262 |
SNPdbe | rs863225262 |
MSV3d | rs863225262 |
GWAS Ctlg | rs863225262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225262(T;T) |
Alt | rs863225262(T;T) |
Reference | Rs863225262(A;A) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41930373A>T |
CLNSRC | Sir Ganga Ram Hospital |
CLNACC | RCV000202366.1, |