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: rs10025419
rs10025419
1 4 100647799 intron variant G/A snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs2866233
rs2866233
1 4 100649444 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2907092
rs2907092
1 5 11047569 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2280828
rs2280828
1 8 117750197 intergenic variant T/C snv 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs11914494
rs11914494
2 3 119121264 intron variant G/A snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs11926663
rs11926663
2 3 119125638 intron variant A/G snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs141827060
rs141827060
2 3 119132020 intron variant C/T snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs17062789
rs17062789
2 8 1203198 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs17062791
rs17062791
2 8 1203431 intron variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs73670671
rs73670671
2 8 1203645 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs34003842
rs34003842
2 8 1206131 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4936767
rs4936767
2 11 123047451 upstream gene variant A/G snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1461494
rs1461494
2 11 123055777 downstream gene variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs4802
rs4802
2 11 123057914 synonymous variant A/C;G snv 4.1E-06; 0.32 0.700 1.000 1 2015 2015
dbSNP: rs4936770
rs4936770
2 11 123058167 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11218976
rs11218976
2 11 123090950 intron variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs10892961
rs10892961
2 11 123093392 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7109445
rs7109445
2 11 123094779 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7121616
rs7121616
2 11 123095918 intron variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.020 1.000 2 2014 2017
dbSNP: rs7039098
rs7039098
2 9 135121473 downstream gene variant T/C snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs7035473
rs7035473
2 9 135121519 downstream gene variant A/G snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs7047901
rs7047901
2 9 135121569 downstream gene variant G/C snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs10119043
rs10119043
2 9 135122706 downstream gene variant C/T snv 0.11 0.700 1.000 1 2015 2015