rs1057516939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516939(-;-) |
Make rs1057516939(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12891383 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs1057516939 |
dbSNP (classic) | rs1057516939 |
ClinGen | rs1057516939 |
ebi | rs1057516939 |
HLI | rs1057516939 |
Exac | rs1057516939 |
Gnomad | rs1057516939 |
Varsome | rs1057516939 |
LitVar | rs1057516939 |
Map | rs1057516939 |
PheGenI | rs1057516939 |
Biobank | rs1057516939 |
1000 genomes | rs1057516939 |
hgdp | rs1057516939 |
ensembl | rs1057516939 |
geneview | rs1057516939 |
scholar | rs1057516939 |
rs1057516939 | |
pharmgkb | rs1057516939 |
gwascentral | rs1057516939 |
openSNP | rs1057516939 |
23andMe | rs1057516939 |
SNPshot | rs1057516939 |
SNPdbe | rs1057516939 |
MSV3d | rs1057516939 |
GWAS Ctlg | rs1057516939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516939(-;-) |
Alt | rs1057516939(-;-) |
Reference | Rs1057516939(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13002197delG |
CLNSRC | |
CLNACC | RCV000409365.1, |