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: rs1384093596
rs1384093596
1 1.000 0.040 12 67657500 missense variant C/T snv 0.700 0
dbSNP: rs1402272180
rs1402272180
1 1.000 0.040 1 243637661 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1466858740
rs1466858740
1 1.000 0.040 16 24180881 missense variant G/A snv 0.700 0
dbSNP: rs1558650888
rs1558650888
2 0.925 0.040 2 25234308 missense variant G/A snv 0.700 0
dbSNP: rs1567176006
rs1567176006
1 1.000 0.040 16 3602208 frameshift variant CT/- del 0.700 0
dbSNP: rs17855787
rs17855787
1 1.000 0.040 17 50109341 missense variant G/A snv 0.700 0
dbSNP: rs371854396
rs371854396
1 1.000 0.040 1 20638098 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs375412266
rs375412266
1 1.000 0.040 3 50617647 missense variant C/G;T snv 2.1E-04; 4.1E-06 0.700 0
dbSNP: rs757496714
rs757496714
1 1.000 0.040 20 388189 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs770462360
rs770462360
1 1.000 0.040 11 64839070 missense variant G/A snv 2.0E-05 0.700 0
dbSNP: rs779221554
rs779221554
1 1.000 0.040 X 109430395 missense variant C/A;T snv 0.700 0
dbSNP: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs373584770
rs373584770
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.030 1.000 3 2005 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.020 1.000 2 2005 2007
dbSNP: rs1259560536
rs1259560536
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2006 2006
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2006 2006
dbSNP: rs2017309
rs2017309
4 0.851 0.040 22 28735438 intron variant T/A snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017