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: rs1306918506
rs1306918506
SZT2
1.000 0.040 1 43439950 missense variant A/T snv 8.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs1553138299
rs1553138299
SZT2
1.000 0.040 1 43403254 missense variant C/G snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs1553154643
rs1553154643
SZT2
1.000 0.040 1 43443774 missense variant C/T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs747241860
rs747241860
SZT2
1.000 0.040 1 43428297 missense variant C/T snv 8.4E-05 1.4E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs748723710
rs748723710
SZT2
1.000 0.040 1 43442281 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs752473314
rs752473314
SZT2
1.000 0.040 1 43428455 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs766294629
rs766294629
SZT2
1.000 0.040 1 43446201 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs780805483
rs780805483
SZT2
1.000 0.040 1 43435233 missense variant G/A;T snv 4.0E-06; 1.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018