rs1055176086
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 68799217 |
Gene | CPT1A |
is a | snp |
is | mentioned by |
dbSNP | rs1055176086 |
dbSNP (classic) | rs1055176086 |
ClinGen | rs1055176086 |
ebi | rs1055176086 |
HLI | rs1055176086 |
Exac | rs1055176086 |
Gnomad | rs1055176086 |
Varsome | rs1055176086 |
LitVar | rs1055176086 |
Map | rs1055176086 |
PheGenI | rs1055176086 |
Biobank | rs1055176086 |
1000 genomes | rs1055176086 |
hgdp | rs1055176086 |
ensembl | rs1055176086 |
geneview | rs1055176086 |
scholar | rs1055176086 |
rs1055176086 | |
pharmgkb | rs1055176086 |
gwascentral | rs1055176086 |
openSNP | rs1055176086 |
23andMe | rs1055176086 |
SNPshot | rs1055176086 |
SNPdbe | rs1055176086 |
MSV3d | rs1055176086 |
GWAS Ctlg | rs1055176086 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1055176086(G;G) |
Alt | rs1055176086(G;G) |
Reference | Rs1055176086(C;C) |
Significance | Probable-Pathogenic |
Disease | Carnitine palmitoyltransferase I deficiency |
Variation | info |
Gene | |
CLNDBN | Carnitine palmitoyltransferase I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.68566685C>G |
CLNSRC | |
CLNACC | RCV000409157.1, |