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: rs114684479
rs114684479
1.000 0.040 7 103596518 missense variant G/T snv 1.6E-03 1.4E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs115035120
rs115035120
1.000 0.040 7 103483741 missense variant C/T snv 8.5E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs121918799
rs121918799
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs121918817
rs121918817
0.882 0.040 2 166045080 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1238779318
rs1238779318
1.000 0.040 16 9938274 missense variant C/G;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1250662891
rs1250662891
0.925 0.040 16 10180176 missense variant G/C snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1306918506
rs1306918506
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: rs1381851622
rs1381851622
1.000 0.040 8 132174283 missense variant C/T snv 1.9E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs138282349
rs138282349
1.000 0.040 9 135792094 missense variant G/A snv 1.0E-03 1.2E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1383795440
rs1383795440
1.000 0.040 22 31754865 5 prime UTR variant G/C snv 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs138450474
rs138450474
1.000 0.040 19 35039140 missense variant G/A;C snv 2.0E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs143166100
rs143166100
1.000 0.040 9 128607988 missense variant C/G snv 5.7E-04 5.4E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1439688451
rs1439688451
1.000 0.040 16 9798433 missense variant C/G;T snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1441152520
rs1441152520
1.000 0.040 9 128632218 missense variant A/G snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs145873257
rs145873257
1.000 0.040 16 7709117 missense variant G/A;T snv 1.8E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs147896487
rs147896487
1.000 0.040 8 18084767 missense variant C/G snv 1.3E-03 1.5E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs150586939
rs150586939
1.000 0.040 18 47156119 splice region variant A/G snv 4.1E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs150821246
rs150821246
1.000 0.040 8 132129618 missense variant C/T snv 3.7E-04 3.1E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1553138299
rs1553138299
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
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: rs1553155982
rs1553155982
1.000 0.040 1 42928996 missense variant T/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1553574522
rs1553574522
1.000 0.040 2 165331362 missense variant T/C snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1554098235
rs1554098235
1.000 0.040 5 162104026 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018
dbSNP: rs1554263366
rs1554263366
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: rs1554626549
rs1554626549
1.000 0.040 8 132170427 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.700 1.000 1 2018 2018