rs111851815
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111851815(A;A) |
Make rs111851815(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 7224245 |
Gene | ACADVL, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs111851815 |
dbSNP (classic) | rs111851815 |
ClinGen | rs111851815 |
ebi | rs111851815 |
HLI | rs111851815 |
Exac | rs111851815 |
Gnomad | rs111851815 |
Varsome | rs111851815 |
LitVar | rs111851815 |
Map | rs111851815 |
PheGenI | rs111851815 |
Biobank | rs111851815 |
1000 genomes | rs111851815 |
hgdp | rs111851815 |
ensembl | rs111851815 |
geneview | rs111851815 |
scholar | rs111851815 |
rs111851815 | |
pharmgkb | rs111851815 |
gwascentral | rs111851815 |
openSNP | rs111851815 |
23andMe | rs111851815 |
SNPshot | rs111851815 |
SNPdbe | rs111851815 |
MSV3d | rs111851815 |
GWAS Ctlg | rs111851815 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111851815(A;A) rs111851815(C;C) |
Alt | rs111851815(A;A) rs111851815(C;C) |
Reference | Rs111851815(T;T) |
Significance | Probable-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.7127564T>C |
CLNSRC | |
CLNACC | RCV000411534.1, |