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: rs1265366960
rs1265366960
2 0.925 0.080 10 121503857 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1354205157
rs1354205157
2 0.925 0.080 10 121565633 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1490997619
rs1490997619
2 0.925 0.080 10 121488065 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs751047267
rs751047267
2 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs780497781
rs780497781
2 0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs1057519038
rs1057519038
3 0.882 0.120 10 121520076 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918492
rs121918492
3 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs121918507
rs121918507
3 0.882 0.280 10 121498591 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1285894726
rs1285894726
3 0.882 0.120 20 38141329 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121918496
rs121918496
4 0.851 0.120 10 121517377 missense variant G/C snv 0.020 1.000 2 1995 2002
dbSNP: rs1057519043
rs1057519043
4 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs777169135
rs777169135
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918505
rs121918505
5 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs746082633
rs746082633
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.030 1.000 3 1995 2014
dbSNP: rs121918490
rs121918490
6 0.851 0.080 10 121517342 missense variant G/C snv 0.010 1.000 1 1995 1995
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2001 2001
dbSNP: rs121913474
rs121913474
9 0.790 0.200 10 121515260 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918502
rs121918502
9 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 1996 2019
dbSNP: rs374608214
rs374608214
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999