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: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs4659682
rs4659682
1 1 236518948 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs79874540
rs79874540
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.020 1.000 2 2015 2017
dbSNP: rs6736017
rs6736017
4 2 231108702 missense variant T/C snv 6.3E-03 2.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2044081
rs2044081
2 1.000 0.080 4 47216323 intron variant C/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs886041097
rs886041097
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs265981
rs265981
3 0.925 0.080 5 175443899 5 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs4532
rs4532
7 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 0.010 1.000 1 2019 2019
dbSNP: rs5326
rs5326
6 0.851 0.160 5 175443193 5 prime UTR variant C/T snv 0.15 0.010 < 0.001 1 2015 2015
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2007 2015
dbSNP: rs13212041
rs13212041
6 0.851 0.200 6 77461407 downstream gene variant C/T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2015 2015
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs806379
rs806379
2 1.000 0.040 6 88151548 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0