rs566417795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a Glutaric aciduria type I mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a Glutaric aciduria type I mutation |
Make rs566417795(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12892125 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs566417795 |
dbSNP (classic) | rs566417795 |
ClinGen | rs566417795 |
ebi | rs566417795 |
HLI | rs566417795 |
Exac | rs566417795 |
Gnomad | rs566417795 |
Varsome | rs566417795 |
LitVar | rs566417795 |
Map | rs566417795 |
PheGenI | rs566417795 |
Biobank | rs566417795 |
1000 genomes | rs566417795 |
hgdp | rs566417795 |
ensembl | rs566417795 |
geneview | rs566417795 |
scholar | rs566417795 |
rs566417795 | |
pharmgkb | rs566417795 |
gwascentral | rs566417795 |
openSNP | rs566417795 |
23andMe | rs566417795 |
SNPshot | rs566417795 |
SNPdbe | rs566417795 |
MSV3d | rs566417795 |
GWAS Ctlg | rs566417795 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs566417795(A;A) |
Alt | rs566417795(A;A) |
Reference | Rs566417795(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | GCDH |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.13002939G>A |
CLNSRC | |
CLNACC | RCV000485466.1, |