Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867410737
rs867410737
ATP5F1D
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs1555762532
rs1555762532
RYR1
G 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs202143236
rs202143236
PFKM ; MIR6505
A 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs74315294
rs74315294
CPT2
T 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs750422335
rs750422335
PGAM2 ; DBNL
T 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
dbSNP: rs763794604
rs763794604
CACNA1S
A 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239

2017
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: rs2819742
rs2819742
RYR2
G 0.700 GeneticVariation GWASCAT Cerivastatin, genetic variants, and the risk of rhabdomyolysis. 21386754

2011
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
A 0.700 CausalMutation CLINVAR

dbSNP: rs138058572
rs138058572
ACADVL ; MIR324
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
A 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
A 0.700 CausalMutation CLINVAR

dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
A 0.700 GeneticVariation CLINVAR