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: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs375817528
rs375817528
CAPN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs387906653
rs387906653
SLC20A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs863225045
rs863225045
ALDH18A1
A 0.700 CausalMutation CLINVAR