rs786204639
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204639(A;A) |
Make rs786204639(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 12891975 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs786204639 |
dbSNP (classic) | rs786204639 |
ClinGen | rs786204639 |
ebi | rs786204639 |
HLI | rs786204639 |
Exac | rs786204639 |
Gnomad | rs786204639 |
Varsome | rs786204639 |
LitVar | rs786204639 |
Map | rs786204639 |
PheGenI | rs786204639 |
Biobank | rs786204639 |
1000 genomes | rs786204639 |
hgdp | rs786204639 |
ensembl | rs786204639 |
geneview | rs786204639 |
scholar | rs786204639 |
rs786204639 | |
pharmgkb | rs786204639 |
gwascentral | rs786204639 |
openSNP | rs786204639 |
23andMe | rs786204639 |
SNPshot | rs786204639 |
SNPdbe | rs786204639 |
MSV3d | rs786204639 |
GWAS Ctlg | rs786204639 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204639(A;A) |
Alt | rs786204639(A;A) |
Reference | Rs786204639(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13002789G>A |
CLNSRC | Counsyl |
CLNACC | RCV000169420.1, |