rs149678400
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149678400(A;A) |
Make rs149678400(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 75745889 |
Gene | ACADM, DLSTP1 |
is a | snp |
is | mentioned by |
dbSNP | rs149678400 |
dbSNP (classic) | rs149678400 |
ClinGen | rs149678400 |
ebi | rs149678400 |
HLI | rs149678400 |
Exac | rs149678400 |
Gnomad | rs149678400 |
Varsome | rs149678400 |
LitVar | rs149678400 |
Map | rs149678400 |
PheGenI | rs149678400 |
Biobank | rs149678400 |
1000 genomes | rs149678400 |
hgdp | rs149678400 |
ensembl | rs149678400 |
geneview | rs149678400 |
scholar | rs149678400 |
rs149678400 | |
pharmgkb | rs149678400 |
gwascentral | rs149678400 |
openSNP | rs149678400 |
23andMe | rs149678400 |
SNPshot | rs149678400 |
SNPdbe | rs149678400 |
MSV3d | rs149678400 |
GWAS Ctlg | rs149678400 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149678400(A;A) rs149678400(T;T) |
Alt | rs149678400(A;A) rs149678400(T;T) |
Reference | Rs149678400(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | DLSTP1 ACADM |
CLNDBN | not specified Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76211574C>A |
CLNSRC | |
CLNACC | RCV000185662.3, RCV000211555.1, |