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: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs10499197
rs10499197
2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs11117432
rs11117432
4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs112846137
rs112846137
4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs12711490
rs12711490
4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs1521
rs1521
3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs17340351
rs17340351
2 0.925 0.040 7 129068743 upstream gene variant T/A snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs17424921
rs17424921
1 1.000 0.040 7 129068068 upstream gene variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs193107685
rs193107685
4 0.851 0.160 7 74123572 downstream gene variant T/C snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs2248462
rs2248462
10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs2280381
rs2280381
3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs2431098
rs2431098
5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2516398
rs2516398
3 0.882 0.200 6 31513749 upstream gene variant G/T snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs2516399
rs2516399
3 0.925 0.120 6 31513522 upstream gene variant A/G snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs2523477
rs2523477
3 0.925 0.080 6 31392612 downstream gene variant T/C snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs2596480
rs2596480
3 0.925 0.120 6 31458208 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2651804
rs2651804
1 1.000 0.040 11 2327389 downstream gene variant T/A;C snv 0.700 1.000 1 2019 2019