rs387906251
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
(GGA;GGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs387906251(-;-) |
Make rs387906251(-;GAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7220969 |
Gene | ACADVL, DLG4 |
is a | snp |
is | mentioned by |
dbSNP | rs387906251 |
dbSNP (classic) | rs387906251 |
ClinGen | rs387906251 |
ebi | rs387906251 |
HLI | rs387906251 |
Exac | rs387906251 |
Gnomad | rs387906251 |
Varsome | rs387906251 |
LitVar | rs387906251 |
Map | rs387906251 |
PheGenI | rs387906251 |
Biobank | rs387906251 |
1000 genomes | rs387906251 |
hgdp | rs387906251 |
ensembl | rs387906251 |
geneview | rs387906251 |
scholar | rs387906251 |
rs387906251 | |
pharmgkb | rs387906251 |
gwascentral | rs387906251 |
openSNP | rs387906251 |
23andMe | rs387906251 |
SNPshot | rs387906251 |
SNPdbe | rs387906251 |
MSV3d | rs387906251 |
GWAS Ctlg | rs387906251 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906251(-;-) Rs387906251(GGA;GGA) |
Alt | rs387906251(-;-) Rs387906251(GGA;GGA) |
Reference | Rs387906251(GAG;GAG) |
Significance | Other |
Disease | Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | DLG4 ACADVL |
CLNDBN | Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7124288_7124290delGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001693.6, |