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: rs63749824
rs63749824
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs63749836
rs63749836
5 0.827 0.160 14 73192786 missense variant G/A snv 0.700 0
dbSNP: rs63750590
rs63750590
10 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
dbSNP: rs63751223
rs63751223
6 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
dbSNP: rs139108915
rs139108915
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs63750711
rs63750711
2 0.925 0.120 17 46018645 missense variant A/T snv 0.010 1.000 1 2000 2000
dbSNP: rs63751264
rs63751264
2 0.925 0.120 17 46018726 missense variant A/T snv 0.810 1.000 1 2001 2001
dbSNP: rs63750512
rs63750512
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.820 1.000 6 1999 2002
dbSNP: rs63750635
rs63750635
5 0.851 0.120 17 46014286 missense variant C/T snv 0.810 1.000 5 1999 2002
dbSNP: rs63750959
rs63750959
5 0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs1189501362
rs1189501362
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235948930
rs1235948930
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63749855
rs63749855
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs866604606
rs866604606
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs63750573
rs63750573
3 0.882 0.120 17 46018627 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63751165
rs63751165
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.030 1.000 3 1999 2005
dbSNP: rs63750376
rs63750376
7 0.827 0.120 17 45996657 missense variant G/T snv 0.020 1.000 2 2003 2005
dbSNP: rs63750306
rs63750306
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs63750905
rs63750905
3 0.882 0.120 17 46018624 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs63750349
rs63750349
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2003 2007
dbSNP: rs63750129
rs63750129
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.820 1.000 6 1999 2008
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008