rs61732144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a SCAD mutation |
Make rs61732144(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120737094 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs61732144 |
dbSNP (classic) | rs61732144 |
ClinGen | rs61732144 |
ebi | rs61732144 |
HLI | rs61732144 |
Exac | rs61732144 |
Gnomad | rs61732144 |
Varsome | rs61732144 |
LitVar | rs61732144 |
Map | rs61732144 |
PheGenI | rs61732144 |
Biobank | rs61732144 |
1000 genomes | rs61732144 |
hgdp | rs61732144 |
ensembl | rs61732144 |
geneview | rs61732144 |
scholar | rs61732144 |
rs61732144 | |
pharmgkb | rs61732144 |
gwascentral | rs61732144 |
openSNP | rs61732144 |
23andMe | rs61732144 |
SNPshot | rs61732144 |
SNPdbe | rs61732144 |
MSV3d | rs61732144 |
GWAS Ctlg | rs61732144 |
Max Magnitude | 3 |
aka c.319C>T (p.Arg107Cys or R107C)
ClinVar | |
---|---|
Risk | rs61732144(T;T) |
Alt | rs61732144(T;T) |
Reference | Rs61732144(C;C) |
Significance | Pathogenic |
Disease | Deficiency of butyryl-CoA dehydrogenase not provided |
Variation | info |
Gene | ACADS |
CLNDBN | Deficiency of butyryl-CoA dehydrogenase not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.121174897C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004030.6, RCV000185680.2, |