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: rs2243204
rs2243204
1 1.000 0.040 5 132663802 intron variant C/T snv 0.24 0.010 1.000 1 2006 2006
dbSNP: rs2305743
rs2305743
1 1.000 0.040 19 18082381 intron variant G/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs2359661
rs2359661
1 1.000 0.040 16 31269826 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs2651804
rs2651804
1 1.000 0.040 11 2327389 downstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs275652
rs275652
1 1.000 0.040 3 148697197 upstream gene variant T/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2904880
rs2904880
5 1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76 0.010 1.000 1 2012 2012
dbSNP: rs3104398
rs3104398
1 1.000 0.040 6 32717908 upstream gene variant G/A snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs310746
rs310746
1 1.000 0.040 3 12218116 intergenic variant C/T snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs3130573
rs3130573
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs34826052
rs34826052
1 1.000 0.040 19 35345697 synonymous variant C/A;T snv 4.0E-02; 7.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs36073657
rs36073657
1 1.000 0.040 7 129011468 intron variant C/T snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs3802954
rs3802954
1 1.000 0.040 11 60470665 3 prime UTR variant T/C snv 6.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs4076852
rs4076852
PXK
1 1.000 0.040 3 58389559 intron variant G/A snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs4134466
rs4134466
1 1.000 0.040 6 106129493 intron variant A/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs4342938
rs4342938
1 1.000 0.040 10 131557214 intergenic variant A/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs4554699
rs4554699
2 0.925 0.040 1 161638578 intergenic variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs4648133
rs4648133
1 1.000 0.040 4 102615256 intron variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs4681851
rs4681851
PXK
1 1.000 0.040 3 58410164 splice region variant C/G snv 0.15 0.15 0.700 1.000 1 2014 2014
dbSNP: rs4789182
rs4789182
1 1.000 0.040 17 75378864 intron variant G/A snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs4790797
rs4790797
1 1.000 0.040 17 5652037 intergenic variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs4939364
rs4939364
1 1.000 0.040 11 60464852 intron variant A/G snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs4941246
rs4941246
1 1.000 0.040 18 64135070 intron variant C/T snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs564732150
rs564732150
1 1.000 0.040 6 31028355 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs589446
rs589446
1 1.000 0.040 3 160015740 non coding transcript exon variant G/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs6073976
rs6073976
1 1.000 0.040 20 45980011 upstream gene variant G/A snv 0.700 1.000 1 2018 2018