rs786204427
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs786204427(CA;GG) |
Make rs786204427(GG;GG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40411257 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs786204427 |
dbSNP (classic) | rs786204427 |
ClinGen | rs786204427 |
ebi | rs786204427 |
HLI | rs786204427 |
Exac | rs786204427 |
Gnomad | rs786204427 |
Varsome | rs786204427 |
LitVar | rs786204427 |
Map | rs786204427 |
PheGenI | rs786204427 |
Biobank | rs786204427 |
1000 genomes | rs786204427 |
hgdp | rs786204427 |
ensembl | rs786204427 |
geneview | rs786204427 |
scholar | rs786204427 |
rs786204427 | |
pharmgkb | rs786204427 |
gwascentral | rs786204427 |
openSNP | rs786204427 |
23andMe | rs786204427 |
SNPshot | rs786204427 |
SNPdbe | rs786204427 |
MSV3d | rs786204427 |
GWAS Ctlg | rs786204427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204427(GG;GG) |
Alt | rs786204427(GG;GG) |
Reference | Rs786204427(CA;CA) |
Significance | Probable-Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40703456_40703457delCAinsGG |
CLNSRC | |
CLNACC | RCV000169022.1, |