Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16531
rs16531
Entrez Id: 782
Gene Symbol: CACNB1
CACNB1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs17633541
rs17633541
Entrez Id: 782;105371768
Gene Symbol: CACNB1;LOC105371768
CACNB1;LOC105371768
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1266205915
rs1266205915
Entrez Id: 782;105371768
Gene Symbol: CACNB1;LOC105371768
CACNB1;LOC105371768
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs138029585
rs138029585
Entrez Id: 782
Gene Symbol: CACNB1
CACNB1
CUI: C0024591
Disease:
Malignant hyperpyrexia due to anesthesia 		0.010 GeneticVariation BEFREE Overall, our data show that mutant variant V156A results in instability of protein subdomains of β<sub>1a</sub> subunit leading to a phenotype of Ca<sup>2+</sup> dysregulation that partly resembles that of other MH-linked mutations of DHPR α<sub>1S</sub> subunit. 29212769 2018