Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894633
rs104894633
RAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894634
rs104894634
RAI1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1135401792
rs1135401792
RAI1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555565492
rs1555565492
RAI1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555566042
rs1555566042
RAI1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1569351529
rs1569351529
SMS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236033
rs527236033
RAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs376048533
rs376048533
IFIH1
0.020 GeneticVariation BEFREE In this study, we present a male child demonstrating recurrent febrile episodes, spasticity, and basal ganglia calcification suggestive of Aicardi-Goutières syndrome, who carries the same Arg822Gln mutation in IFIH1 previously associated with SMS. 28475458

2017
dbSNP: rs376048533
rs376048533
IFIH1
0.020 GeneticVariation BEFREE We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. 25620204

2015