rs779893091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779893091(A;A) |
Make rs779893091(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 68796900 |
Gene | CPT1A |
is a | snp |
is | mentioned by |
dbSNP | rs779893091 |
dbSNP (classic) | rs779893091 |
ClinGen | rs779893091 |
ebi | rs779893091 |
HLI | rs779893091 |
Exac | rs779893091 |
Gnomad | rs779893091 |
Varsome | rs779893091 |
LitVar | rs779893091 |
Map | rs779893091 |
PheGenI | rs779893091 |
Biobank | rs779893091 |
1000 genomes | rs779893091 |
hgdp | rs779893091 |
ensembl | rs779893091 |
geneview | rs779893091 |
scholar | rs779893091 |
rs779893091 | |
pharmgkb | rs779893091 |
gwascentral | rs779893091 |
openSNP | rs779893091 |
23andMe | rs779893091 |
SNPshot | rs779893091 |
SNPdbe | rs779893091 |
MSV3d | rs779893091 |
GWAS Ctlg | rs779893091 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779893091(A;A) rs779893091(T;T) |
Alt | rs779893091(A;A) rs779893091(T;T) |
Reference | Rs779893091(G;G) |
Significance | Probable-Pathogenic |
Disease | Carnitine palmitoyltransferase I deficiency |
Variation | info |
Gene | CPT1A |
CLNDBN | Carnitine palmitoyltransferase I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.68564368G>A |
CLNSRC | |
CLNACC | RCV000410747.1, |