rs765815516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765815516(C;T) |
Make rs765815516(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 40407723 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs765815516 |
dbSNP (classic) | rs765815516 |
ClinGen | rs765815516 |
ebi | rs765815516 |
HLI | rs765815516 |
Exac | rs765815516 |
Gnomad | rs765815516 |
Varsome | rs765815516 |
LitVar | rs765815516 |
Map | rs765815516 |
PheGenI | rs765815516 |
Biobank | rs765815516 |
1000 genomes | rs765815516 |
hgdp | rs765815516 |
ensembl | rs765815516 |
geneview | rs765815516 |
scholar | rs765815516 |
rs765815516 | |
pharmgkb | rs765815516 |
gwascentral | rs765815516 |
openSNP | rs765815516 |
23andMe | rs765815516 |
SNPshot | rs765815516 |
SNPdbe | rs765815516 |
MSV3d | rs765815516 |
GWAS Ctlg | rs765815516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765815516(T;T) |
Alt | rs765815516(T;T) |
Reference | Rs765815516(C;C) |
Significance | Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency not provided |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.40699924C>T |
CLNSRC | |
CLNACC | RCV000410639.1, RCV000413831.1, |