rs373715782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(T;T) | 5 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75745822 |
Gene | ACADM, DLSTP1 |
is a | snp |
is | mentioned by |
dbSNP | rs373715782 |
dbSNP (classic) | rs373715782 |
ClinGen | rs373715782 |
ebi | rs373715782 |
HLI | rs373715782 |
Exac | rs373715782 |
Gnomad | rs373715782 |
Varsome | rs373715782 |
LitVar | rs373715782 |
Map | rs373715782 |
PheGenI | rs373715782 |
Biobank | rs373715782 |
1000 genomes | rs373715782 |
hgdp | rs373715782 |
ensembl | rs373715782 |
geneview | rs373715782 |
scholar | rs373715782 |
rs373715782 | |
pharmgkb | rs373715782 |
gwascentral | rs373715782 |
openSNP | rs373715782 |
23andMe | rs373715782 |
SNPshot | rs373715782 |
SNPdbe | rs373715782 |
MSV3d | rs373715782 |
GWAS Ctlg | rs373715782 |
Max Magnitude | 5 |
aka c.616C>T (p.Arg206Cys or R206C)
ClinVar | |
---|---|
Risk | Rs373715782(T;T) |
Alt | Rs373715782(T;T) |
Reference | Rs373715782(C;C) |
Significance | Other |
Disease | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | DLSTP1 ACADM |
CLNDBN | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76211507C>T |
CLNSRC | HGMD |
CLNACC | RCV000077892.5, RCV000180087.1, |