Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912421
rs121912421
ADAR
0.710 GeneticVariation BEFREE Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. 23315877

2013
dbSNP: rs121912421
rs121912421
ADAR
A 0.710 CausalMutation CLINVAR