rs191107774
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs191107774(C;T) |
Make rs191107774(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 68812436 |
Gene | CPT1A |
is a | snp |
is | mentioned by |
dbSNP | rs191107774 |
dbSNP (classic) | rs191107774 |
ClinGen | rs191107774 |
ebi | rs191107774 |
HLI | rs191107774 |
Exac | rs191107774 |
Gnomad | rs191107774 |
Varsome | rs191107774 |
LitVar | rs191107774 |
Map | rs191107774 |
PheGenI | rs191107774 |
Biobank | rs191107774 |
1000 genomes | rs191107774 |
hgdp | rs191107774 |
ensembl | rs191107774 |
geneview | rs191107774 |
scholar | rs191107774 |
rs191107774 | |
pharmgkb | rs191107774 |
gwascentral | rs191107774 |
openSNP | rs191107774 |
23andMe | rs191107774 |
SNPshot | rs191107774 |
SNPdbe | rs191107774 |
MSV3d | rs191107774 |
GWAS Ctlg | rs191107774 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191107774(T;T) |
Alt | rs191107774(T;T) |
Reference | Rs191107774(C;C) |
Significance | Pathogenic |
Disease | not provided Carnitine palmitoyltransferase I deficiency |
Variation | info |
Gene | CPT1A |
CLNDBN | not provided Carnitine palmitoyltransferase I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.68579904C>T |
CLNSRC | ClinVar |
CLNACC | RCV000079913.3, RCV000177139.1, |