rs118204018
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118204018(A;A) |
Make rs118204018(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7223707 |
Gene | ACADVL, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs118204018 |
dbSNP (classic) | rs118204018 |
ClinGen | rs118204018 |
ebi | rs118204018 |
HLI | rs118204018 |
Exac | rs118204018 |
Gnomad | rs118204018 |
Varsome | rs118204018 |
LitVar | rs118204018 |
Map | rs118204018 |
PheGenI | rs118204018 |
Biobank | rs118204018 |
1000 genomes | rs118204018 |
hgdp | rs118204018 |
ensembl | rs118204018 |
geneview | rs118204018 |
scholar | rs118204018 |
rs118204018 | |
pharmgkb | rs118204018 |
gwascentral | rs118204018 |
openSNP | rs118204018 |
23andMe | rs118204018 |
SNPshot | rs118204018 |
SNPdbe | rs118204018 |
MSV3d | rs118204018 |
GWAS Ctlg | rs118204018 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204018(A;A) rs118204018(T;T) |
Alt | rs118204018(A;A) rs118204018(T;T) |
Reference | Rs118204018(G;G) |
Significance | Pathogenic |
Disease | Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | MIR324 ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7127026G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001700.3, |