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: rs550921485
rs550921485
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs574658589
rs574658589
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs775863165
rs775863165
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs786205675
rs786205675
3 1.000 0.080 1 32889123 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121434410
rs121434410
3 1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1296383102
rs1296383102
2 2 190208898 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs796065306
rs796065306
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs104894003
rs104894003
7 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs146087734
rs146087734
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs374512193
rs374512193
4 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs727502811
rs727502811
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs1182
rs1182
9 0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 0.020 1.000 2 2009 2015
dbSNP: rs1801968
rs1801968
7 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
dbSNP: rs3842225
rs3842225
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.020 0.500 2 2015 2017
dbSNP: rs1269252748
rs1269252748
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs142909469
rs142909469
2 9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1476648522
rs1476648522
2 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs35153737
rs35153737
2 9 129813558 3 prime UTR variant C/- del 0.14 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2009 2015
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1999 1999