rs368705240
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368705240(C;T) |
Make rs368705240(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 40416332 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs368705240 |
dbSNP (classic) | rs368705240 |
ClinGen | rs368705240 |
ebi | rs368705240 |
HLI | rs368705240 |
Exac | rs368705240 |
Gnomad | rs368705240 |
Varsome | rs368705240 |
LitVar | rs368705240 |
Map | rs368705240 |
PheGenI | rs368705240 |
Biobank | rs368705240 |
1000 genomes | rs368705240 |
hgdp | rs368705240 |
ensembl | rs368705240 |
geneview | rs368705240 |
scholar | rs368705240 |
rs368705240 | |
pharmgkb | rs368705240 |
gwascentral | rs368705240 |
openSNP | rs368705240 |
23andMe | rs368705240 |
SNPshot | rs368705240 |
SNPdbe | rs368705240 |
MSV3d | rs368705240 |
GWAS Ctlg | rs368705240 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368705240(T;T) |
Alt | rs368705240(T;T) |
Reference | Rs368705240(C;C) |
Significance | Pathogenic |
Disease | Isovaleryl-CoA dehydrogenase deficiency |
Variation | info |
Gene | IVD |
CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.40708531C>T |
CLNSRC | |
CLNACC | RCV000301785.1, |