Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1568658507
rs1568658507
KCNB1
1 1.000 0.040 20 49482353 missense variant T/C snv 0.700 0
dbSNP: rs1569017015
rs1569017015
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374312 missense variant G/T snv 0.700 0
dbSNP: rs1569017045
rs1569017045
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374359 missense variant C/T snv 0.700 0
dbSNP: rs1569017073
rs1569017073
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374380 missense variant C/T snv 0.700 0
dbSNP: rs1569017123
rs1569017123
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374421 missense variant T/C snv 0.700 0
dbSNP: rs1569017143
rs1569017143
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374428 missense variant C/G snv 0.700 0
dbSNP: rs1569017148
rs1569017148
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374430 missense variant G/T snv 0.700 0
dbSNP: rs1569017174
rs1569017174
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374455 missense variant A/G snv 0.700 0
dbSNP: rs1569017205
rs1569017205
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374515 missense variant C/A snv 0.700 0
dbSNP: rs1569017257
rs1569017257
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374592 missense variant G/A snv 0.700 0
dbSNP: rs1569017337
rs1569017337
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374703 frameshift variant A/- del 0.700 0
dbSNP: rs1569219844
rs1569219844
CDKL5
1 1.000 0.040 X 18604845 frameshift variant AG/- del 0.700 0
dbSNP: rs375659415
rs375659415
USP19
1 1.000 0.040 3 49115844 missense variant C/A;T snv 8.1E-06 0.700 0
dbSNP: rs536000212
rs536000212
TRIT1
1 1.000 0.040 1 39854050 frameshift variant G/- delins 3.2E-04 0.700 0
dbSNP: rs759766243
rs759766243
WWOX
1 1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05 0.700 0
dbSNP: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994177 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1 1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 0.700 0
dbSNP: rs1392120633
rs1392120633
SCN8A
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104894629
rs104894629
PNPO
2 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs121917750
rs121917750
SCN2A
2 0.925 0.080 2 165386881 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs387906685
rs387906685
SCN2A
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs397518447
rs397518447
GRIN2A
2 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503973
rs727503973
KCNQ2
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019