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: rs36067435
rs36067435
1 1.000 0.040 4 110180390 intron variant -/TTAT delins 0.700 1.000 1 2019 2019
dbSNP: rs1902023
rs1902023
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2735839
rs2735839
7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs12621278
rs12621278
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs16902947
rs16902947
1 1.000 0.040 5 36308995 intergenic variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs17144046
rs17144046
4 0.882 0.120 10 8564051 intergenic variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs2745557
rs2745557
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2004 2004
dbSNP: rs141179786
rs141179786
1 1.000 0.040 18 53662174 intergenic variant A/G;T snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs200476
rs200476
2 1.000 0.040 6 27800570 intergenic variant A/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1045531
rs1045531
3 0.882 0.080 8 142682129 synonymous variant C/A snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1899663
rs1899663
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs72551387
rs72551387
3 0.882 0.080 4 68568232 missense variant C/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs680055
rs680055
5 0.851 0.120 7 99859982 missense variant C/A;G snv 6.5E-02 0.13 0.010 1.000 1 2008 2008
dbSNP: rs10459953
rs10459953
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2364480
rs2364480
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs6078585
rs6078585
1 1.000 0.040 20 12447612 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs6561599
rs6561599
2 1.000 0.040 13 50904782 non coding transcript exon variant C/G snv 0.61 0.700 1.000 1 2018 2018