rs34695403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34695403(C;T) |
Make rs34695403(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40407639 |
Gene | IVD |
is a | snp |
is | mentioned by |
dbSNP | rs34695403 |
dbSNP (classic) | rs34695403 |
ClinGen | rs34695403 |
ebi | rs34695403 |
HLI | rs34695403 |
Exac | rs34695403 |
Gnomad | rs34695403 |
Varsome | rs34695403 |
LitVar | rs34695403 |
Map | rs34695403 |
PheGenI | rs34695403 |
Biobank | rs34695403 |
1000 genomes | rs34695403 |
hgdp | rs34695403 |
ensembl | rs34695403 |
geneview | rs34695403 |
scholar | rs34695403 |
rs34695403 | |
pharmgkb | rs34695403 |
gwascentral | rs34695403 |
openSNP | rs34695403 |
23andMe | rs34695403 |
SNPshot | rs34695403 |
SNPdbe | rs34695403 |
MSV3d | rs34695403 |
GWAS Ctlg | rs34695403 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34695403(G;G) rs34695403(T;T) |
Alt | rs34695403(G;G) rs34695403(T;T) |
Reference | Rs34695403(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.40699840C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003748.2, |