rs765161206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765161206(A;A) |
Make rs765161206(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 68760296 |
Gene | CPT1A |
is a | snp |
is | mentioned by |
dbSNP | rs765161206 |
dbSNP (classic) | rs765161206 |
ClinGen | rs765161206 |
ebi | rs765161206 |
HLI | rs765161206 |
Exac | rs765161206 |
Gnomad | rs765161206 |
Varsome | rs765161206 |
LitVar | rs765161206 |
Map | rs765161206 |
PheGenI | rs765161206 |
Biobank | rs765161206 |
1000 genomes | rs765161206 |
hgdp | rs765161206 |
ensembl | rs765161206 |
geneview | rs765161206 |
scholar | rs765161206 |
rs765161206 | |
pharmgkb | rs765161206 |
gwascentral | rs765161206 |
openSNP | rs765161206 |
23andMe | rs765161206 |
SNPshot | rs765161206 |
SNPdbe | rs765161206 |
MSV3d | rs765161206 |
GWAS Ctlg | rs765161206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765161206(A;A) |
Alt | rs765161206(A;A) |
Reference | Rs765161206(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.68527764G>A |
CLNSRC | |
CLNACC | RCV000409477.1, |