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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 30 1996 2016
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 1.000 12 1994 2005
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.070 1.000 7 2000 2018
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.060 1.000 6 1997 2008
dbSNP: rs121912442
rs121912442
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.060 1.000 6 1994 2018
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.040 1.000 4 1999 2015
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.030 1.000 3 1998 2001
dbSNP: rs121912432
rs121912432
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.020 1.000 2 2000 2003
dbSNP: rs121912437
rs121912437
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.020 1.000 2 1998 2009
dbSNP: rs121912439
rs121912439
4 0.851 0.080 21 31667320 missense variant A/G snv 0.020 1.000 2 1997 1998
dbSNP: rs121912445
rs121912445
4 0.882 0.080 21 31667331 missense variant A/T snv 0.020 1.000 2 1996 2017
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912440
rs121912440
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912444
rs121912444
2 0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs121912451
rs121912451
2 0.925 0.080 21 31668517 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912452
rs121912452
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs121912455
rs121912455
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1312702973
rs1312702973
1 1.000 0.080 21 31659788 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1424014997
rs1424014997
3 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs567511139
rs567511139
2 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 1996 1996