Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516032
rs1057516032
ATP1A3
GA 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057523354
rs1057523354
COL4A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR