rs137852871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a maple syrup urine disease mutation |
(G;G) | 0 | common in clinvar |
Make rs137852871(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41422643 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs137852871 |
dbSNP (classic) | rs137852871 |
ClinGen | rs137852871 |
ebi | rs137852871 |
HLI | rs137852871 |
Exac | rs137852871 |
Gnomad | rs137852871 |
Varsome | rs137852871 |
LitVar | rs137852871 |
Map | rs137852871 |
PheGenI | rs137852871 |
Biobank | rs137852871 |
1000 genomes | rs137852871 |
hgdp | rs137852871 |
ensembl | rs137852871 |
geneview | rs137852871 |
scholar | rs137852871 |
rs137852871 | |
pharmgkb | rs137852871 |
gwascentral | rs137852871 |
openSNP | rs137852871 |
23andMe | rs137852871 |
SNPshot | rs137852871 |
SNPdbe | rs137852871 |
MSV3d | rs137852871 |
GWAS Ctlg | rs137852871 |
Max Magnitude | 3 |
aka c.868G>A (p.Gly290Arg or G290R)
ClinVar | |
---|---|
Risk | rs137852871(A;A) rs137852871(C;C) |
Alt | rs137852871(A;A) rs137852871(C;C) |
Reference | Rs137852871(G;G) |
Significance | Pathogenic |
Disease | MAPLE SYRUP URINE DISEASE not provided Maple syrup urine disease |
Variation | info |
Gene | BCKDHA |
CLNDBN | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA not provided Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000019.9:g.41928548G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002475.3, RCV000079258.3, RCV000179775.2, |