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: rs1176869
rs1176869
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12438477
rs12438477
1 15 79885941 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1245314
rs1245314
1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12921862
rs12921862
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1531070
rs1531070
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs4720169
rs4720169
2 1.000 0.040 7 35247689 intron variant G/A snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs492842
rs492842
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs66678247
rs66678247
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs7294985
rs7294985
1 12 16349610 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs870142
rs870142
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9909104
rs9909104
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs17111230
rs17111230
1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs2474937
rs2474937
6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs56409046
rs56409046
1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs2844660
rs2844660
1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs75661265
rs75661265
1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1057518422
rs1057518422
7 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs114878910
rs114878910
4 0.882 0.080 9 37784894 stop gained G/A;C snv 8.6E-06; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs763679435
rs763679435
4 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 13 2001 2019
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2006 2017
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2009 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2009 2017