rs771914739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs771914739(A;G) |
Make rs771914739(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 40411258 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs771914739 |
dbSNP (classic) | rs771914739 |
ClinGen | rs771914739 |
ebi | rs771914739 |
HLI | rs771914739 |
Exac | rs771914739 |
Gnomad | rs771914739 |
Varsome | rs771914739 |
LitVar | rs771914739 |
Map | rs771914739 |
PheGenI | rs771914739 |
Biobank | rs771914739 |
1000 genomes | rs771914739 |
hgdp | rs771914739 |
ensembl | rs771914739 |
geneview | rs771914739 |
scholar | rs771914739 |
rs771914739 | |
pharmgkb | rs771914739 |
gwascentral | rs771914739 |
openSNP | rs771914739 |
23andMe | rs771914739 |
SNPshot | rs771914739 |
SNPdbe | rs771914739 |
MSV3d | rs771914739 |
GWAS Ctlg | rs771914739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771914739(C;C) rs771914739(G;G) |
Alt | rs771914739(C;C) rs771914739(G;G) |
Reference | Rs771914739(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.40703457A>G |
CLNSRC | |
CLNACC | RCV000169016.1, |