Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199801224
rs199801224
T 0.700 CausalMutation CLINVAR TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. 30245509

2019

dbSNP: rs199801224
rs199801224
T 0.700 CausalMutation CLINVAR Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. 27711071

2017