rs148584617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148584617(A;A) |
Make rs148584617(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 7224973 |
Gene | ACADVL, DVL2, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs148584617 |
dbSNP (classic) | rs148584617 |
ClinGen | rs148584617 |
ebi | rs148584617 |
HLI | rs148584617 |
Exac | rs148584617 |
Gnomad | rs148584617 |
Varsome | rs148584617 |
LitVar | rs148584617 |
Map | rs148584617 |
PheGenI | rs148584617 |
Biobank | rs148584617 |
1000 genomes | rs148584617 |
hgdp | rs148584617 |
ensembl | rs148584617 |
geneview | rs148584617 |
scholar | rs148584617 |
rs148584617 | |
pharmgkb | rs148584617 |
gwascentral | rs148584617 |
openSNP | rs148584617 |
23andMe | rs148584617 |
SNPshot | rs148584617 |
SNPdbe | rs148584617 |
MSV3d | rs148584617 |
GWAS Ctlg | rs148584617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148584617(A;A) |
Alt | rs148584617(A;A) |
Reference | Rs148584617(G;G) |
Significance | Pathogenic |
Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
Variation | info |
Gene | MIR324 ACADVL DVL2 |
CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.7128292G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000176020.4, RCV000193309.1, RCV000259174.1, |