Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
TGGC 0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424

2011
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
TGGC 0.700 CausalMutation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007