rs398123091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a VLCAD deficiency mutation |
(G;G) | 0 | common in clinvar |
Make rs398123091(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 7221993 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs398123091 |
dbSNP (classic) | rs398123091 |
ClinGen | rs398123091 |
ebi | rs398123091 |
HLI | rs398123091 |
Exac | rs398123091 |
Gnomad | rs398123091 |
Varsome | rs398123091 |
LitVar | rs398123091 |
Map | rs398123091 |
PheGenI | rs398123091 |
Biobank | rs398123091 |
1000 genomes | rs398123091 |
hgdp | rs398123091 |
ensembl | rs398123091 |
geneview | rs398123091 |
scholar | rs398123091 |
rs398123091 | |
pharmgkb | rs398123091 |
gwascentral | rs398123091 |
openSNP | rs398123091 |
23andMe | rs398123091 |
SNPshot | rs398123091 |
SNPdbe | rs398123091 |
MSV3d | rs398123091 |
GWAS Ctlg | rs398123091 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs398123091(A;A) |
Alt | rs398123091(A;A) |
Reference | Rs398123091(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
Variation | info |
Gene | DLG4 ACADVL |
CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.7125312G>A |
CLNSRC | HGMD |
CLNACC | RCV000077922.6, RCV000169301.1, RCV000259076.1, |