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: rs104894503
rs104894503
9 0.769 0.250 15 63060899 missense variant G/A snp 1.6E-05 3.2E-05 0.800 1.000 14 1996 2017
dbSNP: rs104894724
rs104894724
5 0.821 0.071 19 55154146 missense variant G/A,C snp 4.0E-06 6.4E-05 0.740 1.000 17 1997 2017
dbSNP: rs397516005
rs397516005
4 0.846 0.107 11 47333566 stop gained G/A snp 8.4E-06 6.4E-05 0.730 1.000 6 2003 2017
dbSNP: rs36211715
rs36211715
6 0.821 0.107 14 23424839 missense variant C/A,G,T snp 4.0E-06 3.2E-05 0.720 1.000 17 1995 2017
dbSNP: rs121913627
rs121913627
6 0.821 0.107 14 23427657 missense variant C/G,T snp 4.0E-06 3.2E-05 0.720 1.000 16 1992 2017
dbSNP: rs121913624
rs121913624
5 0.821 0.107 14 23429278 stop lost C/A,G,T snp 0.720 1.000 15 1990 2017
dbSNP: rs121913631
rs121913631
5 0.821 0.107 14 23424107 missense variant G/C snp 3.2E-05 0.720 0.500 13 1992 2017
dbSNP: rs121913641
rs121913641
5 0.821 0.107 14 23425970 stop lost C/G,T snp 0.710 1.000 15 1994 2017
dbSNP: rs104894729
rs104894729
5 0.846 0.071 19 55151892 missense variant C/A,G,T snp 0.710 1.000 12 2003 2017
dbSNP: rs3218716
rs3218716
10 0.744 0.179 14 23425316 missense variant C/A,G,T snp 4.0E-06; 2.4E-05 0.710 1.000 12 1999 2017
dbSNP: rs3218714
rs3218714
9 0.756 0.179 14 23429279 stop gained G/A,C snp 0.710 1.000 10 1990 2017
dbSNP: rs397516357
rs397516357
4 0.846 0.107 19 55151910 missense variant C/T snp 0.710 < 0.001 9 2003 2017
dbSNP: rs121913625
rs121913625
6 0.801 0.107 14 23429005 stop gained G/A,C,T snp 0.710 1.000 8 1993 2017
dbSNP: rs121913630
rs121913630
5 0.821 0.107 14 23425814 missense variant G/A,C snp 1.2E-05 0.710 < 0.001 2 2010 2017
dbSNP: rs587782962
rs587782962
2 0.923 0.071 14 23422267 missense variant C/T snp 6.4E-05 3.2E-05 0.710 1.000 2 2015 2017
dbSNP: rs371898076
rs371898076
8 0.769 0.179 14 23426833 missense variant C/T snp 8.0E-06 6.4E-05 0.700 18 2000 2017
dbSNP: rs397516354
rs397516354
6 0.801 0.071 19 55154094 missense variant C/G,T snp 4.0E-05 0.700 16 1997 2017
dbSNP: rs397516074
rs397516074
5 0.846 0.107 11 47348424 missense variant C/T snp 1.7E-05 6.4E-05 0.700 13 1998 2017
dbSNP: rs397516127
rs397516127
9 0.756 0.179 14 23426834 stop gained G/A,C snp 0.700 13 2000 2017
dbSNP: rs397516209
rs397516209
5 0.821 0.107 14 23432713 missense variant C/T snp 4.0E-06 0.700 13 2003 2017
dbSNP: rs121909374
rs121909374
8 0.784 0.107 11 47342578 missense variant C/A,G snp 1.3E-05 6.4E-05 0.700 12 1997 2017
dbSNP: rs397515937
rs397515937
4 0.846 0.071 11 47339792 splice acceptor variant T/C snp 0.700 12 1996 2017
dbSNP: rs397516347
rs397516347
3 0.878 0.071 19 55154157 missense variant C/T snp 3.2E-05 0.700 12 2003 2017
dbSNP: rs104894727
rs104894727
3 0.878 0.071 19 55151881 missense variant C/A,T snp 4.0E-06 3.2E-05 0.700 11 2002 2017
dbSNP: rs200411226
rs200411226
4 0.878 0.071 11 47342718 missense variant C/T snp 2.4E-05 0.700 11 1998 2017