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: rs121918492
rs121918492
3 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.810 1.000 6 1994 1998
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 10 1994 2014
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.800 1.000 5 1994 1998
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.800 1.000 5 1994 1998
dbSNP: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.800 1.000 1 2000 2000
dbSNP: rs121918490
rs121918490
6 0.851 0.080 10 121517342 missense variant G/C snv 0.710 1.000 12 1994 2016
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 1.000 8 1994 2015
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1434545235
rs1434545235
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918496
rs121918496
4 0.851 0.120 10 121517377 missense variant G/C snv 0.010 1.000 1 1995 1995
dbSNP: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs747976513
rs747976513
1 1.000 0.080 8 38418351 missense variant G/C snv 5.6E-05 4.2E-05 0.010 1.000 1 2017 2017
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