rs387906249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a VLCAD deficiency mutation |
(G;G) | 0 | common in clinvar |
Make rs387906249(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7220924 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs387906249 |
dbSNP (classic) | rs387906249 |
ClinGen | rs387906249 |
ebi | rs387906249 |
HLI | rs387906249 |
Exac | rs387906249 |
Gnomad | rs387906249 |
Varsome | rs387906249 |
LitVar | rs387906249 |
Map | rs387906249 |
PheGenI | rs387906249 |
Biobank | rs387906249 |
1000 genomes | rs387906249 |
hgdp | rs387906249 |
ensembl | rs387906249 |
geneview | rs387906249 |
scholar | rs387906249 |
rs387906249 | |
pharmgkb | rs387906249 |
gwascentral | rs387906249 |
openSNP | rs387906249 |
23andMe | rs387906249 |
SNPshot | rs387906249 |
SNPdbe | rs387906249 |
MSV3d | rs387906249 |
GWAS Ctlg | rs387906249 |
Merged from | Rs387906250 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906249(-;-) |
Alt | rs387906249(-;-) |
Reference | Rs387906249(G;G) |
Significance | Other |
Disease | Very long chain acyl-CoA dehydrogenase deficiency not provided |
Variation | info |
Gene | DLG4 ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7124243delG |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000001691.7, RCV000077915.3, |