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: rs731839
rs731839
5 19 33408159 intron variant G/A snv 0.63 0.700 1.000 3 2013 2018
dbSNP: rs73591976
rs73591976
1 16 67777687 intron variant C/A snv 0.14 0.700 1.000 3 2015 2019
dbSNP: rs759819
rs759819
3 1.000 0.080 19 54304302 intron variant C/G;T snv 0.700 1.000 3 2015 2019
dbSNP: rs77697917
rs77697917
4 17 43763481 upstream gene variant C/G;T snv 0.700 1.000 3 2015 2018
dbSNP: rs77960347
rs77960347
6 18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03 0.700 1.000 3 2014 2018
dbSNP: rs821840
rs821840
4 16 56959974 upstream gene variant A/G snv 0.700 1.000 3 2018 2019
dbSNP: rs10106652
rs10106652
3 1.000 0.040 8 20070649 intergenic variant G/A snv 0.29 0.700 1.000 2 2018 2019
dbSNP: rs1041968
rs1041968
6 2 21009932 synonymous variant G/A snv 0.39 0.38 0.700 1.000 2 2018 2019
dbSNP: rs10438978
rs10438978
2 18 49631816 intergenic variant T/C snv 0.75 0.700 1.000 2 2015 2018
dbSNP: rs10504474
rs10504474
1 8 70348225 intron variant G/A snv 9.9E-02 0.700 1.000 2 2018 2018
dbSNP: rs10713774
rs10713774
3 4 26048829 intergenic variant C/- del 0.18 0.700 1.000 2 2018 2019
dbSNP: rs10744826
rs10744826
3 12 109527707 intron variant C/G snv 0.57 0.700 1.000 2 2018 2019
dbSNP: rs10750097
rs10750097
6 1.000 0.040 11 116793324 upstream gene variant G/A;C snv 0.700 1.000 2 2012 2012
dbSNP: rs10790162
rs10790162
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.700 1.000 2 2011 2019
dbSNP: rs11048456
rs11048456
6 1.000 0.080 12 26310149 intron variant C/T snv 0.62 0.700 1.000 2 2018 2018
dbSNP: rs11076176
rs11076176
4 16 56973534 intron variant T/A;G snv 2.4E-05; 0.22 0.700 1.000 2 2012 2012
dbSNP: rs1129555
rs1129555
5 10 112150963 3 prime UTR variant A/G snv 0.71 0.700 1.000 2 2018 2019
dbSNP: rs118146573
rs118146573
3 16 56967026 intron variant G/A snv 9.4E-02 0.700 1.000 2 2018 2019
dbSNP: rs12721046
rs12721046
8 19 44917997 intron variant G/A snv 0.11 0.700 1.000 2 2012 2012
dbSNP: rs12753251
rs12753251
2 1 178560763 upstream gene variant G/A snv 0.42 0.700 1.000 2 2018 2019
dbSNP: rs12948394
rs12948394
3 17 78386710 intron variant C/T snv 0.47 0.700 1.000 2 2015 2018
dbSNP: rs12970066
rs12970066
1 18 49580782 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 2 2016 2018
dbSNP: rs13379043
rs13379043
1 14 73783423 intron variant T/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs138326449
rs138326449
5 0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03 0.700 1.000 2 2017 2018