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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.857 14 2005 2019
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.030 1.000 3 2010 2018
dbSNP: rs3761959
rs3761959
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.810 1.000 2 2011 2013
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs10908583
rs10908583
1 1.000 0.120 1 157671893 downstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1149386
rs1149386
1 1.000 0.120 1 160471451 TF binding site variant G/C snv 0.96 0.700 1.000 1 2011 2011
dbSNP: rs12136280
rs12136280
1 1.000 0.120 1 203302802 intron variant G/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1230666
rs1230666
2 0.925 0.200 1 113630788 intron variant A/G snv 0.90 0.010 1.000 1 2015 2015
dbSNP: rs1265883
rs1265883
1 1.000 0.120 1 160495121 intron variant C/A;G snv 0.96 0.800 1.000 1 2013 2013
dbSNP: rs12743184
rs12743184
1 1.000 0.120 1 157784569 intergenic variant A/G snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1371808321
rs1371808321
1 1.000 0.120 1 100724755 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1736557
rs1736557
2 0.925 0.160 1 171110939 missense variant G/A snv 8.2E-02 6.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs17534202
rs17534202
7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2010 2010
dbSNP: rs2050568
rs2050568
2 0.925 0.160 1 157800451 intron variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs2072493
rs2072493
4 0.851 0.280 1 223111257 missense variant T/A;C snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2184658
rs2184658
2 0.925 0.120 1 220879115 intron variant C/G snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2210911
rs2210911
1 1.000 0.120 1 157674077 downstream gene variant A/G snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs2765493
rs2765493
1 1.000 0.120 1 157828210 downstream gene variant G/A snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs2797685
rs2797685
3 0.882 0.160 1 7819003 intron variant C/T snv 0.23 0.010 1.000 1 2019 2019