rs796051983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051983(C;T) |
Make rs796051983(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 40415412 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs796051983 |
dbSNP (classic) | rs796051983 |
ClinGen | rs796051983 |
ebi | rs796051983 |
HLI | rs796051983 |
Exac | rs796051983 |
Gnomad | rs796051983 |
Varsome | rs796051983 |
LitVar | rs796051983 |
Map | rs796051983 |
PheGenI | rs796051983 |
Biobank | rs796051983 |
1000 genomes | rs796051983 |
hgdp | rs796051983 |
ensembl | rs796051983 |
geneview | rs796051983 |
scholar | rs796051983 |
rs796051983 | |
pharmgkb | rs796051983 |
gwascentral | rs796051983 |
openSNP | rs796051983 |
23andMe | rs796051983 |
SNPshot | rs796051983 |
SNPdbe | rs796051983 |
MSV3d | rs796051983 |
GWAS Ctlg | rs796051983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051983(T;T) |
Alt | rs796051983(T;T) |
Reference | Rs796051983(C;C) |
Significance | Probable-Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40707611C>T |
CLNSRC | |
CLNACC | RCV000412245.1, |