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: rs375168720
rs375168720
DDHD2
3 0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05 0.700 1.000 4 2012 2014
dbSNP: rs1044352
rs1044352
PCDH7
1 1.000 0.040 4 31146252 3 prime UTR variant G/A;C;T snv 0.700 1.000 2 2014 2018
dbSNP: rs796052908
rs796052908
POLG ; MIR6766
3 0.882 0.160 15 89327329 frameshift variant AG/- delins 4.0E-06 1.4E-05 0.700 1.000 2 2003 2008
dbSNP: rs11890028
rs11890028
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166086767 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs11943905
rs11943905
GABRA2
1 1.000 0.040 4 46395600 intron variant C/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs121964976
rs121964976
GLDC
3 0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02 0.700 1.000 1 2000 2000
dbSNP: rs13200150
rs13200150
PTPRK
1 1.000 0.040 6 127988623 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1402398
rs1402398 		1 1.000 0.040 2 57815106 intergenic variant G/A snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs1939012
rs1939012
MMP8
2 1.000 0.040 11 102724404 intron variant T/C snv 0.58 0.700 1.000 1 2014 2014
dbSNP: rs2833098
rs2833098 		1 1.000 0.040 21 30811678 upstream gene variant G/A snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs2947349
rs2947349 		1 1.000 0.040 2 57832668 intergenic variant C/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs4596374
rs4596374 		1 1.000 0.040 5 114885808 intergenic variant C/T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs4665630
rs4665630
KLHL29
3 0.925 0.080 2 23675447 intron variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs4794333
rs4794333
CDK5RAP3
1 1.000 0.040 17 47968129 intron variant T/C snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs55670112
rs55670112 		1 1.000 0.040 5 114932773 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs68082256
rs68082256 		1 1.000 0.040 6 16971344 intergenic variant G/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs887696
rs887696 		1 1.000 0.040 2 190718781 TF binding site variant C/T snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121917953
rs121917953
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166054677 missense variant T/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121917986
rs121917986
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918628
rs121918628
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1285524167
rs1285524167
ABCC8
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006