rs753698250
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs753698250(A;A) |
Make rs753698250(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 41422715 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs753698250 |
dbSNP (classic) | rs753698250 |
ClinGen | rs753698250 |
ebi | rs753698250 |
HLI | rs753698250 |
Exac | rs753698250 |
Gnomad | rs753698250 |
Varsome | rs753698250 |
LitVar | rs753698250 |
Map | rs753698250 |
PheGenI | rs753698250 |
Biobank | rs753698250 |
1000 genomes | rs753698250 |
hgdp | rs753698250 |
ensembl | rs753698250 |
geneview | rs753698250 |
scholar | rs753698250 |
rs753698250 | |
pharmgkb | rs753698250 |
gwascentral | rs753698250 |
openSNP | rs753698250 |
23andMe | rs753698250 |
SNPshot | rs753698250 |
SNPdbe | rs753698250 |
MSV3d | rs753698250 |
GWAS Ctlg | rs753698250 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753698250(A;A) rs753698250(T;T) |
Alt | rs753698250(A;A) rs753698250(T;T) |
Reference | Rs753698250(C;C) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41928620C>T |
CLNSRC | |
CLNACC | RCV000209887.1, |