rs786204613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | common genotype |
(T;T) | 0 | common in clinvar |
Make rs786204613(-;-) |
Make rs786204613(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40418170 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs786204613 |
dbSNP (classic) | rs786204613 |
ClinGen | rs786204613 |
ebi | rs786204613 |
HLI | rs786204613 |
Exac | rs786204613 |
Gnomad | rs786204613 |
Varsome | rs786204613 |
LitVar | rs786204613 |
Map | rs786204613 |
PheGenI | rs786204613 |
Biobank | rs786204613 |
1000 genomes | rs786204613 |
hgdp | rs786204613 |
ensembl | rs786204613 |
geneview | rs786204613 |
scholar | rs786204613 |
rs786204613 | |
pharmgkb | rs786204613 |
gwascentral | rs786204613 |
openSNP | rs786204613 |
23andMe | rs786204613 |
SNPshot | rs786204613 |
SNPdbe | rs786204613 |
MSV3d | rs786204613 |
GWAS Ctlg | rs786204613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204613(-;-) |
Alt | rs786204613(-;-) |
Reference | Rs786204613(T;T) |
Significance | Probable-Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40710369delT |
CLNSRC | |
CLNACC | RCV000169373.2, |