rs757434857
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs757434857(A;G) |
Make rs757434857(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 75732659 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs757434857 |
dbSNP (classic) | rs757434857 |
ClinGen | rs757434857 |
ebi | rs757434857 |
HLI | rs757434857 |
Exac | rs757434857 |
Gnomad | rs757434857 |
Varsome | rs757434857 |
LitVar | rs757434857 |
Map | rs757434857 |
PheGenI | rs757434857 |
Biobank | rs757434857 |
1000 genomes | rs757434857 |
hgdp | rs757434857 |
ensembl | rs757434857 |
geneview | rs757434857 |
scholar | rs757434857 |
rs757434857 | |
pharmgkb | rs757434857 |
gwascentral | rs757434857 |
openSNP | rs757434857 |
23andMe | rs757434857 |
SNPshot | rs757434857 |
SNPdbe | rs757434857 |
MSV3d | rs757434857 |
GWAS Ctlg | rs757434857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757434857(G;G) |
Alt | rs757434857(G;G) |
Reference | Rs757434857(A;A) |
Significance | Probable-Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76198344A>G |
CLNSRC | |
CLNACC | RCV000333494.1, |