rs786204536
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204536(C;T) |
Make rs786204536(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 7222014 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204536 |
dbSNP (classic) | rs786204536 |
ClinGen | rs786204536 |
ebi | rs786204536 |
HLI | rs786204536 |
Exac | rs786204536 |
Gnomad | rs786204536 |
Varsome | rs786204536 |
LitVar | rs786204536 |
Map | rs786204536 |
PheGenI | rs786204536 |
Biobank | rs786204536 |
1000 genomes | rs786204536 |
hgdp | rs786204536 |
ensembl | rs786204536 |
geneview | rs786204536 |
scholar | rs786204536 |
rs786204536 | |
pharmgkb | rs786204536 |
gwascentral | rs786204536 |
openSNP | rs786204536 |
23andMe | rs786204536 |
SNPshot | rs786204536 |
SNPdbe | rs786204536 |
MSV3d | rs786204536 |
GWAS Ctlg | rs786204536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204536(T;T) |
Alt | rs786204536(T;T) |
Reference | Rs786204536(C;C) |
Significance | Probable-Pathogenic |
Disease | Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | DLG4 ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7125333C>T |
CLNSRC | |
CLNACC | RCV000169238.1, |