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: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567
MDH2
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796
MDH2
7 0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 0.700 1.000 1 2017 2017
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
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.750 16 2007 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2008 2017
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.020 1.000 2 2012 2016
dbSNP: rs1018001612
rs1018001612
PRKN
2 0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05 0.010 1.000 1 2019 2019
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: rs1049346
rs1049346
GLO1
3 0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54 0.010 1.000 1 2016 2016
dbSNP: rs1130534
rs1130534
GLO1
1 1.000 0.040 6 38682812 synonymous variant T/A snv 0.16 0.18 0.010 1.000 1 2016 2016
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: rs145390085
rs145390085
L2HGDH
2 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016
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: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2016 2016
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: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs387906683
rs387906683
SCN2A
3 0.882 0.040 2 165297053 stop gained C/T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs4817027
rs4817027
MIR155HG
2 0.925 0.040 21 25566677 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015