Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746967306
rs746967306
0.010 GeneticVariation BEFREE In conclusion, the four PA mutations caused more profound changes on Ca<sub>V</sub>3.2 (+26) currents than on Ca<sub>V</sub>3.2 (-26) currents, and except the M1549I mutation, the S196 L, V1951E and P2083 L have little effect on the electrophysiological properties of Ca<sub>V</sub>3.2(-26) currents, which may partially explain the limitation of the phenotype associated with the V1951E, S196 L and P2083 L germline mutations to PA. 31706065

2019