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: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
dbSNP: rs1482760341
rs1482760341
2 0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05 0.820 1.000 38 1993 2017
dbSNP: rs121912442
rs121912442
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs121912434
rs121912434
2 0.925 0.080 21 31663842 missense variant G/A snv 0.800 1.000 32 1993 2017
dbSNP: rs121912441
rs121912441
2 0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06 0.800 1.000 32 1976 2017
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
dbSNP: rs121912444
rs121912444
2 0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.820 1.000 29 1993 2015
dbSNP: rs121912440
rs121912440
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs121912446
rs121912446
1 1.000 0.080 21 31668547 missense variant T/C snv 0.800 1.000 28 1993 2017
dbSNP: rs121912435
rs121912435
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912437
rs121912437
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 25 1993 2017
dbSNP: rs121912432
rs121912432
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912439
rs121912439
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012
dbSNP: rs121912448
rs121912448
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.810 1.000 24 1993 2012
dbSNP: rs121912452
rs121912452
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912455
rs121912455
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.810 1.000 24 1993 2012
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912447
rs121912447
1 1.000 0.080 21 31668549 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs121912449
rs121912449
1 1.000 0.080 21 31668568 missense variant T/C snv 0.800 1.000 23 1993 2012
dbSNP: rs121912450
rs121912450
1 1.000 0.080 21 31659833 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs121912451
rs121912451
2 0.925 0.080 21 31668517 missense variant G/A;C snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912453
rs121912453
1 1.000 0.080 21 31659818 missense variant G/A;T snv 0.800 1.000 23 1993 2012