Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs1557055405
rs1557055405
ABCD1
A 0.700 GeneticVariation CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087

1998
dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555727493
rs1555727493
KMT2B
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs1555954284
rs1555954284
DDX3X
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs370717845
rs370717845
HGSNAT
A 0.700 CausalMutation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312880
rs869312880
REEP1
T 0.700 CausalMutation CLINVAR