rs1057516979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs1057516979(-;-) |
Make rs1057516979(-;AA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 7220796 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516979 |
dbSNP (classic) | rs1057516979 |
ClinGen | rs1057516979 |
ebi | rs1057516979 |
HLI | rs1057516979 |
Exac | rs1057516979 |
Gnomad | rs1057516979 |
Varsome | rs1057516979 |
LitVar | rs1057516979 |
Map | rs1057516979 |
PheGenI | rs1057516979 |
Biobank | rs1057516979 |
1000 genomes | rs1057516979 |
hgdp | rs1057516979 |
ensembl | rs1057516979 |
geneview | rs1057516979 |
scholar | rs1057516979 |
rs1057516979 | |
pharmgkb | rs1057516979 |
gwascentral | rs1057516979 |
openSNP | rs1057516979 |
23andMe | rs1057516979 |
SNPshot | rs1057516979 |
SNPdbe | rs1057516979 |
MSV3d | rs1057516979 |
GWAS Ctlg | rs1057516979 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516979(-;-) |
Alt | rs1057516979(-;-) |
Reference | Rs1057516979(AA;AA) |
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.7124115_7124116delAA |
CLNSRC | |
CLNACC | RCV000410821.1, |