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: rs1065386
rs1065386
1 1.000 0.160 6 31356770 missense variant G/A;C;T snv 0.34; 5.6E-06 0.700 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: rs1144964
rs1144964
CPM
1 1.000 0.160 12 68944857 intron variant G/C;T snv 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: 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: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2002 2002
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1902491
rs1902491
2 0.925 0.240 4 155134181 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2064196
rs2064196
1 1.000 0.160 6 144266047 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3081219
rs3081219
1 1.000 0.160 15 53583969 intron variant GAGA/-;GA delins 0.700 1.000 1 2019 2019
dbSNP: rs4726066
rs4726066
1 1.000 0.160 7 151625186 intron variant G/A;C 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: rs7604016
rs7604016
1 1.000 0.160 2 61965000 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs78464534
rs78464534
1 1.000 0.160 2 115234275 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs201584991
rs201584991
1 1.000 0.160 8 124979483 downstream gene variant ATT/- delins 2.6E-04 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: 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: 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: 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: 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: 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: 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: rs114921230
rs114921230
1 1.000 0.160 1 226595161 intron variant G/A snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs74705672
rs74705672
1 1.000 0.160 8 132042380 intron variant A/T snv 4.9E-02 0.700 1.000 1 2019 2019