Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019

dbSNP: rs1043679457
rs1043679457
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518848
rs1057518848
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1064797102
rs1064797102
G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
G 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs120074160
rs120074160
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1232880706
rs1232880706
A 0.700 CausalMutation CLINVAR

dbSNP: rs1325394060
rs1325394060
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
A 0.700 CausalMutation CLINVAR

dbSNP: rs138632121
rs138632121
A 0.700 CausalMutation CLINVAR

dbSNP: rs142239530
rs142239530
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554121443
rs1554121443
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554122802
rs1554122802
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555247672
rs1555247672
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556910184
rs1556910184
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556978515
rs1556978515
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557006873
rs1557006873
C 0.700 GeneticVariation CLINVAR