rs773560012
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs773560012(A;G) |
Make rs773560012(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 40418190 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs773560012 |
dbSNP (classic) | rs773560012 |
ClinGen | rs773560012 |
ebi | rs773560012 |
HLI | rs773560012 |
Exac | rs773560012 |
Gnomad | rs773560012 |
Varsome | rs773560012 |
LitVar | rs773560012 |
Map | rs773560012 |
PheGenI | rs773560012 |
Biobank | rs773560012 |
1000 genomes | rs773560012 |
hgdp | rs773560012 |
ensembl | rs773560012 |
geneview | rs773560012 |
scholar | rs773560012 |
rs773560012 | |
pharmgkb | rs773560012 |
gwascentral | rs773560012 |
openSNP | rs773560012 |
23andMe | rs773560012 |
SNPshot | rs773560012 |
SNPdbe | rs773560012 |
MSV3d | rs773560012 |
GWAS Ctlg | rs773560012 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773560012(G;G) |
Alt | rs773560012(G;G) |
Reference | Rs773560012(A;A) |
Significance | Probable-Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40710389A>G |
CLNSRC | |
CLNACC | RCV000412119.1, |