rs387906252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(AGA;AGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs387906252(-;-) |
Make rs387906252(-;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7222683 |
Gene | ACADVL |
is a | snp |
is | mentioned by |
dbSNP | rs387906252 |
dbSNP (classic) | rs387906252 |
ClinGen | rs387906252 |
ebi | rs387906252 |
HLI | rs387906252 |
Exac | rs387906252 |
Gnomad | rs387906252 |
Varsome | rs387906252 |
LitVar | rs387906252 |
Map | rs387906252 |
PheGenI | rs387906252 |
Biobank | rs387906252 |
1000 genomes | rs387906252 |
hgdp | rs387906252 |
ensembl | rs387906252 |
geneview | rs387906252 |
scholar | rs387906252 |
rs387906252 | |
pharmgkb | rs387906252 |
gwascentral | rs387906252 |
openSNP | rs387906252 |
23andMe | rs387906252 |
SNPshot | rs387906252 |
SNPdbe | rs387906252 |
MSV3d | rs387906252 |
GWAS Ctlg | rs387906252 |
Merged from | Rs398123094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906252(-;-) Rs387906252(AGA;AGA) |
Alt | rs387906252(-;-) Rs387906252(AGA;AGA) |
Reference | Rs387906252(AAG;AAG) |
Significance | Other |
Disease | Very long chain acyl-CoA dehydrogenase deficiency not provided |
Variation | info |
Gene | ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7126003_7126005delAGA |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000001694.5, RCV000077926.4, |