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: rs17789218
rs17789218
3 6 100152221 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11597086
rs11597086
1 10 100193948 non coding transcript exon variant A/C snv 0.30 0.29 0.700 1.000 1 2012 2012
dbSNP: rs17883880
rs17883880
4 10 100230590 intron variant T/A snv 1.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs12784396
rs12784396
4 0.925 0.040 10 100267650 5 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7955221
rs7955221
2 12 100456972 intergenic variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs314311
rs314311
1 7 100824859 non coding transcript exon variant T/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1062062
rs1062062
1 2 101011463 missense variant C/T snv 9.8E-02 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10185855
rs10185855
4 2 101025798 intron variant A/G snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs11224571
rs11224571
PGR
3 11 101047942 intron variant C/A snv 1.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs7928851
rs7928851
PGR
3 11 101117160 intron variant C/A snv 1.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151
6 11 101127486 missense variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12097137
rs12097137
3 1 101243889 downstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12101753
rs12101753
1 15 101446855 intron variant T/C snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs17199964
rs17199964
5 4 101786634 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs6951245
rs6951245
2 7 1018557 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs28385681
rs28385681
1 2 102017062 intron variant T/G snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs3917237
rs3917237
1 2 102155991 intron variant G/A snv 1.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs13135092
rs13135092
4 4 102276925 intron variant A/G snv 5.1E-02 0.700 1.000 2 2018 2018
dbSNP: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7952037
rs7952037
3 11 102379653 downstream gene variant C/T snv 1.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs5030339
rs5030339
5 19 10269461 intron variant G/A snv 3.4E-03 0.700 1.000 1 2012 2012
dbSNP: rs5030359
rs5030359
3 19 10277786 intron variant G/A snv 2.1E-03 0.700 1.000 1 2012 2012
dbSNP: rs7938449
rs7938449
1 11 102778167 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2362529
rs2362529
1 7 1028270 synonymous variant T/C snv 0.15 0.23 0.700 1.000 1 2018 2018