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: rs10261922
rs10261922
1 1.000 0.120 7 50414314 intergenic variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1037351
rs1037351
1 1.000 0.120 7 50497706 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2003 2012
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519773
rs1057519773
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs10740055
rs10740055
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.810 1.000 5 2009 2019
dbSNP: rs10821938
rs10821938
2 0.925 0.120 10 61965014 intron variant A/C snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs10899736
rs10899736
1 1.000 0.120 7 50479227 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10949482
rs10949482
1 1.000 0.120 6 18121083 3 prime UTR variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.710 1.000 3 2009 2019
dbSNP: rs11013046
rs11013046
1 1.000 0.120 10 22551654 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs1110701
rs1110701
1 1.000 0.120 7 50410929 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11155133
rs11155133
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs112141546
rs112141546
1 1.000 0.120 16 77367618 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs1142345
rs1142345
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11575387
rs11575387
1 1.000 0.120 7 50499737 intron variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11575575
rs11575575
1 1.000 0.120 7 50456510 intron variant C/A snv 7.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs11770117
rs11770117
2 1.000 0.120 7 50406065 downstream gene variant A/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.810 1.000 5 2009 2019