Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852917
rs137852917
EPM2A
1.000 0.080 6 145627577 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.810 1.000 0 1998 2015
dbSNP: rs104893955
rs104893955
EPM2A ; LOC100507557
1.000 0.080 6 145735405 missense variant A/C;T snv
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.800 1.000 0 1998 2015
dbSNP: rs137852915
rs137852915
EPM2A
1.000 0.080 6 145686276 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.800 1.000 0 1998 2015
dbSNP: rs104893950
rs104893950
EPM2A
0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.720 1.000 2 2000 2014
dbSNP: rs104893950
rs104893950
EPM2A
0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.700 1.000 3 1998 2014
dbSNP: rs1554263366
rs1554263366
EPM2A
1.000 0.040 6 145686284 missense variant T/C snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs781291421
rs781291421
EPM2A
1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.700 1.000 1 2004 2004
dbSNP: rs587776553
rs587776553
EPM2A
1.000 0.080 6 145686262 stop gained -/T delins
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.700 0
dbSNP: rs587776554
rs587776554
EPM2A
1.000 0.080 6 145627458 frameshift variant -/A delins
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.700 0