Progressive Myoclonic Epilepsy
Neurological
151 variants
6 genes
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Associated Genes (6)
SCARB2
EPM2A
GOSR2
CSTB
PRICKLE2
KCNC1
Associated Variants (151)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS886041075
SCARB2
—
—
strong
RS368906199
SCARB2
—
—
strong
RS777308612
EPM2A
—
—
strong
RS796052428
EPM2A
—
—
strong
RS146321088
EPM2A
—
—
strong
RS571938170
EPM2A
—
—
strong
RS763719276
EPM2A
—
—
strong
RS138510884
GOSR2
—
—
strong
RS137975476
GOSR2
—
—
strong
RS570768038
CSTB
—
—
strong
RS141554661
GOSR2
—
—
strong
RS886041078
SCARB2
—
—
strong
RS886041076
SCARB2
—
—
strong
RS200053119
SCARB2
—
—
strong
RS200220646
PRICKLE2
—
—
strong
RS143518519
SCARB2
—
—
strong
RS886058800
PRICKLE2
—
—
strong
RS567814417
PRICKLE2
—
—
strong
RS745530308
PRICKLE2
—
—
strong
RS771168722
PRICKLE2
—
—
strong
RS144338942
PRICKLE2
—
—
strong
RS139238137
PRICKLE2
—
—
strong
RS200210055
GOSR2
—
—
strong
RS747791818
GOSR2
—
—
strong
RS2476228297
SCARB2
—
—
strong
RS587780938
EPM2A
—
—
strong
RS137852917
EPM2A
—
—
strong
RS137852915
EPM2A
—
—
strong
RS137852916
EPM2A
—
—
strong
RS104893955
EPM2A
—
—
strong
RS727502773
SCARB2
—
—
strong
RS121909118
SCARB2
—
—
strong
RS147484110
CSTB
—
—
strong
RS74315442
CSTB
—
—
strong
RS727502783
SCARB2
—
—
strong
RS387906881
GOSR2
—
—
strong
RS139747674
PRICKLE2
—
—
strong
RS796943858
CSTB
—
—
strong
RS104893950
EPM2A
—
—
strong
RS547147183
EPM2A
—
—
strong
RS573306680
GOSR2
—
—
strong
RS545986367
CSTB
—
—
strong
RS727502818
KCNC1
—
—
strong
RS150452237
EPM2A
—
—
strong
RS727504106
PRICKLE2
—
—
strong
RS143153487
CSTB
—
—
strong
RS143558324
SCARB2
—
—
strong
RS147399860
EPM2A
—
—
strong
RS777442803
GOSR2
—
—
strong
RS147159813
SCARB2
—
—
strong
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