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: rs121918143
rs121918143
3 0.882 0.080 2 127426180 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs121918153
rs121918153
2 0.925 0.080 2 127426208 missense variant G/A;T snv 9.5E-05; 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121918156
rs121918156
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs142742242
rs142742242
2 0.925 0.080 2 127428761 missense variant G/A snv 3.2E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs146922325
rs146922325
5 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs572021052
rs572021052
1 1.000 0.080 2 127428797 missense variant A/G snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 1999 2017
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 1994 1994
dbSNP: rs121909552
rs121909552
2 0.925 0.080 1 173914725 missense variant C/T snv 9.5E-05 1.7E-04 0.010 1.000 1 1990 1990
dbSNP: rs121912713
rs121912713
5 0.851 0.200 14 94378561 missense variant A/C snv 0.010 1.000 1 1992 1992
dbSNP: rs121918146
rs121918146
5 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs767730328
rs767730328
2 0.925 0.080 2 127428660 missense variant T/C snv 4.0E-06 0.010 1.000 1 1998 1998