rs373713279
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373713279(A;A) |
Make rs373713279(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41422278 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs373713279 |
dbSNP (classic) | rs373713279 |
ClinGen | rs373713279 |
ebi | rs373713279 |
HLI | rs373713279 |
Exac | rs373713279 |
Gnomad | rs373713279 |
Varsome | rs373713279 |
LitVar | rs373713279 |
Map | rs373713279 |
PheGenI | rs373713279 |
Biobank | rs373713279 |
1000 genomes | rs373713279 |
hgdp | rs373713279 |
ensembl | rs373713279 |
geneview | rs373713279 |
scholar | rs373713279 |
rs373713279 | |
pharmgkb | rs373713279 |
gwascentral | rs373713279 |
openSNP | rs373713279 |
23andMe | rs373713279 |
SNPshot | rs373713279 |
SNPdbe | rs373713279 |
MSV3d | rs373713279 |
GWAS Ctlg | rs373713279 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373713279(A;A) |
Alt | rs373713279(A;A) |
Reference | Rs373713279(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.41928183C>A |
CLNSRC | HGMD |
CLNACC | RCV000079253.3, RCV000179338.1, |