rs1057517426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGTT;AGTT) | 0 | common in clinvar |
Make rs1057517426(-;-) |
Make rs1057517426(-;GTTA) |
Make rs1057517426(GTTA;GTTA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 7222223 |
Gene | ACADVL |
is a | snp |
is | mentioned by |
dbSNP | rs1057517426 |
dbSNP (classic) | rs1057517426 |
ClinGen | rs1057517426 |
ebi | rs1057517426 |
HLI | rs1057517426 |
Exac | rs1057517426 |
Gnomad | rs1057517426 |
Varsome | rs1057517426 |
LitVar | rs1057517426 |
Map | rs1057517426 |
PheGenI | rs1057517426 |
Biobank | rs1057517426 |
1000 genomes | rs1057517426 |
hgdp | rs1057517426 |
ensembl | rs1057517426 |
geneview | rs1057517426 |
scholar | rs1057517426 |
rs1057517426 | |
pharmgkb | rs1057517426 |
gwascentral | rs1057517426 |
openSNP | rs1057517426 |
23andMe | rs1057517426 |
SNPshot | rs1057517426 |
SNPdbe | rs1057517426 |
MSV3d | rs1057517426 |
GWAS Ctlg | rs1057517426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517426(-;-) |
Alt | rs1057517426(-;-) |
Reference | Rs1057517426(AGTT;AGTT) |
Significance | Probable-Pathogenic |
Disease | Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7125542_7125545delGTTA |
CLNSRC | |
CLNACC | RCV000410749.1, |