rs182923857
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs182923857(C;T) |
Make rs182923857(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 41423038 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs182923857 |
dbSNP (classic) | rs182923857 |
ClinGen | rs182923857 |
ebi | rs182923857 |
HLI | rs182923857 |
Exac | rs182923857 |
Gnomad | rs182923857 |
Varsome | rs182923857 |
LitVar | rs182923857 |
Map | rs182923857 |
PheGenI | rs182923857 |
Biobank | rs182923857 |
1000 genomes | rs182923857 |
hgdp | rs182923857 |
ensembl | rs182923857 |
geneview | rs182923857 |
scholar | rs182923857 |
rs182923857 | |
pharmgkb | rs182923857 |
gwascentral | rs182923857 |
openSNP | rs182923857 |
23andMe | rs182923857 |
SNPshot | rs182923857 |
SNPdbe | rs182923857 |
MSV3d | rs182923857 |
GWAS Ctlg | rs182923857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs182923857(T;T) |
Alt | rs182923857(T;T) |
Reference | Rs182923857(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.41928943C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000079216.3, RCV000180181.1, |