rs545215807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs545215807(G;T) |
Make rs545215807(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 7221613 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs545215807 |
dbSNP (classic) | rs545215807 |
ClinGen | rs545215807 |
ebi | rs545215807 |
HLI | rs545215807 |
Exac | rs545215807 |
Gnomad | rs545215807 |
Varsome | rs545215807 |
LitVar | rs545215807 |
Map | rs545215807 |
PheGenI | rs545215807 |
Biobank | rs545215807 |
1000 genomes | rs545215807 |
hgdp | rs545215807 |
ensembl | rs545215807 |
geneview | rs545215807 |
scholar | rs545215807 |
rs545215807 | |
pharmgkb | rs545215807 |
gwascentral | rs545215807 |
openSNP | rs545215807 |
23andMe | rs545215807 |
SNPshot | rs545215807 |
SNPdbe | rs545215807 |
MSV3d | rs545215807 |
GWAS Ctlg | rs545215807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs545215807(A;A) rs545215807(T;T) |
Alt | rs545215807(A;A) rs545215807(T;T) |
Reference | Rs545215807(G;G) |
Significance | Pathogenic |
Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | DLG4 ACADVL |
CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7124932G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000185742.2, RCV000412436.1, |