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: rs10738760
rs10738760 		7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs11201335
rs11201335 		1 1.000 0.160 10 85018443 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs115523882
rs115523882 		1 1.000 0.160 3 168158417 intergenic variant A/G snv 9.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs116396065
rs116396065 		1 1.000 0.160 8 121117030 intron variant T/A snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs137949823
rs137949823 		1 1.000 0.160 5 43743007 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs138683663
rs138683663 		1 1.000 0.160 18 59195550 intergenic variant C/T snv 4.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs149201869
rs149201869 		1 1.000 0.160 2 215487796 downstream gene variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs184340784
rs184340784 		2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs1902491
rs1902491 		2 0.925 0.240 4 155134181 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs200295620
rs200295620 		2 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs2064196
rs2064196 		1 1.000 0.160 6 144266047 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6921438
rs6921438 		10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs72740408
rs72740408 		1 1.000 0.160 1 191136701 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs74161190
rs74161190 		1 1.000 0.160 10 130737530 intergenic variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs75348186
rs75348186 		1 1.000 0.160 10 36782685 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs78340493
rs78340493 		1 1.000 0.160 4 43636179 intergenic variant C/A snv 5.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1414474
rs1414474
C1orf94
1 1.000 0.160 1 34197810 missense variant C/G snv 0.20 0.20 0.700 1.000 1 2019 2019
dbSNP: rs73228199
rs73228199
CD96
1 1.000 0.160 3 111597517 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs4865047
rs4865047
CEP135
2 0.925 0.240 4 55955640 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs7604016
rs7604016
COMMD1
1 1.000 0.160 2 61965000 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1144964
rs1144964
CPM
1 1.000 0.160 12 68944857 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3825932
rs3825932
CTSH
6 0.827 0.360 15 78943104 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs78464534
rs78464534
DPP10
1 1.000 0.160 2 115234275 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015