rs749452002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749452002(A;A) |
Make rs749452002(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12896018 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs749452002 |
dbSNP (classic) | rs749452002 |
ClinGen | rs749452002 |
ebi | rs749452002 |
HLI | rs749452002 |
Exac | rs749452002 |
Gnomad | rs749452002 |
Varsome | rs749452002 |
LitVar | rs749452002 |
Map | rs749452002 |
PheGenI | rs749452002 |
Biobank | rs749452002 |
1000 genomes | rs749452002 |
hgdp | rs749452002 |
ensembl | rs749452002 |
geneview | rs749452002 |
scholar | rs749452002 |
rs749452002 | |
pharmgkb | rs749452002 |
gwascentral | rs749452002 |
openSNP | rs749452002 |
23andMe | rs749452002 |
SNPshot | rs749452002 |
SNPdbe | rs749452002 |
MSV3d | rs749452002 |
GWAS Ctlg | rs749452002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749452002(A;A) |
Alt | rs749452002(A;A) |
Reference | Rs749452002(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13006832G>A |
CLNSRC | |
CLNACC | RCV000409563.1, |