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: rs10910095
rs10910095
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1102705
rs1102705
3 0.925 0.080 1 172731728 intergenic variant G/A snv 0.93 0.700 1.000 1 2017 2017
dbSNP: rs11204896
rs11204896
1 1 151824266 intron variant C/G snv 7.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs115288876
rs115288876
3 0.925 0.120 1 152027641 intron variant G/A snv 2.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs12045923
rs12045923
1 1 10583772 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12123821
rs12123821
4 0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs1214598
rs1214598
3 0.925 0.120 1 167457187 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12743520
rs12743520
2 1.000 0.080 1 92571555 intron variant C/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1411402
rs1411402
1 1 10519488 intron variant G/T snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2056417
rs2056417
1 1 10521601 intron variant G/A snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs2070901
rs2070901
4 0.882 0.120 1 161215268 non coding transcript exon variant G/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs2070902
rs2070902
2 1.000 0.120 1 161217875 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs2483677
rs2483677
1 1 10520834 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs2847344
rs2847344
1 1 10504618 intron variant G/A snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs2988277
rs2988277
1 1 167462115 intron variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs301805
rs301805
3 1.000 0.080 1 8420956 intron variant T/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs301806
rs301806
6 0.851 0.120 1 8422018 intron variant C/T snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs4090390
rs4090390
1 1 173177782 upstream gene variant C/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs4908769
rs4908769
1 1 8641229 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs616402
rs616402
2 1 10506215 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs61815704
rs61815704
2 1.000 0.080 1 152921415 intergenic variant C/G snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs61816766
rs61816766
2 1.000 0.080 1 152347096 intron variant T/C snv 1.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs668805
rs668805
1 1 10484490 intron variant G/A snv 0.75 0.700 1.000 1 2013 2013