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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2006 2014
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 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 1.000 1 2012 2012
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2012 2012
dbSNP: rs72653762
rs72653762
ABCC6
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 0.700 0
dbSNP: rs1569540688
rs1569540688
ABCD1 ; BCAP31
4 0.925 0.240 X 153725586 missense variant T/C snv 0.700 0
dbSNP: rs587776625
rs587776625
ADGRG1
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs11001109
rs11001109
ADK
1 10 74683339 intron variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs397514452
rs397514452
ADK
5 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.700 1.000 8 2006 2017
dbSNP: rs121912708
rs121912708
ALDH7A1
3 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1444879414
rs1444879414
ALDH7A1
1 5 126595148 frameshift variant -/T delins 6.0E-06 0.700 0
dbSNP: rs750693623
rs750693623
ALDH7A1
2 1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 0.700 0
dbSNP: rs778003597
rs778003597
ALDH7A1
1 5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1560162116
rs1560162116
ALG3
5 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
dbSNP: rs1560164682
rs1560164682
ALG3
5 0.882 0.080 3 184245709 splice region variant T/C snv 0.700 0