rs375785084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375785084(C;T) |
Make rs375785084(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41422176 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs375785084 |
dbSNP (classic) | rs375785084 |
ClinGen | rs375785084 |
ebi | rs375785084 |
HLI | rs375785084 |
Exac | rs375785084 |
Gnomad | rs375785084 |
Varsome | rs375785084 |
LitVar | rs375785084 |
Map | rs375785084 |
PheGenI | rs375785084 |
Biobank | rs375785084 |
1000 genomes | rs375785084 |
hgdp | rs375785084 |
ensembl | rs375785084 |
geneview | rs375785084 |
scholar | rs375785084 |
rs375785084 | |
pharmgkb | rs375785084 |
gwascentral | rs375785084 |
openSNP | rs375785084 |
23andMe | rs375785084 |
SNPshot | rs375785084 |
SNPdbe | rs375785084 |
MSV3d | rs375785084 |
GWAS Ctlg | rs375785084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375785084(T;T) |
Alt | rs375785084(T;T) |
Reference | Rs375785084(C;C) |
Significance | Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41928081C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000079249.3, RCV000179335.1, |