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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs137852776
rs137852776
EFHC1
5 0.827 0.080 6 52452799 missense variant T/C snv 3.5E-03 2.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 < 0.001 1 2012 2012
dbSNP: rs387906683
rs387906683
SCN2A
3 0.882 0.040 2 165297053 stop gained C/T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs1554438588
rs1554438588
RHEB
2 0.925 0.120 7 151490948 missense variant T/A snv 0.700 0
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
10 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0