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: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs757158
rs757158
5 0.851 0.240 7 95326216 upstream gene variant C/T snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.700 1.000 1 2019 2019
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs12231737
rs12231737
5 0.925 0.120 12 112136812 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs738408
rs738408
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10272006
rs10272006
SP4
3 0.925 0.080 7 21480514 intron variant G/A snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs6455128
rs6455128
2 1.000 0.080 6 61987841 intron variant A/C snv 0.79 0.700 1.000 1 2008 2008
dbSNP: rs9389268
rs9389268
6 1.000 0.080 6 135098493 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11820744
rs11820744
2 1.000 0.040 11 3147308 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs139271658
rs139271658
2 1.000 0.040 9 9797383 intron variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs17109512
rs17109512
2 1.000 0.040 10 98367794 regulatory region variant G/A snv 9.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs62141163
rs62141163
2 1.000 0.040 2 31440248 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs76850691
rs76850691
1 10 99397681 stop gained G/A;C snv 4.0E-06; 5.2E-03 0.700 1.000 2 2013 2019
dbSNP: rs10001545
rs10001545
3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10165093
rs10165093
1 2 232639279 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs10198552
rs10198552
2 2 134842306 intron variant T/C snv 6.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs10509735
rs10509735
1 10 99372525 intron variant A/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs10827785
rs10827785
1 10 17933413 intergenic variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs11067592
rs11067592
2 12 109631385 intergenic variant G/T snv 1.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs11292716
rs11292716
1 7 95305887 intron variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs114059064
rs114059064
1 6 33108491 upstream gene variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs115695709
rs115695709
1 6 32223562 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs117983281
rs117983281
1 9 2809077 intron variant C/T snv 1.6E-02 0.700 1.000 1 2019 2019