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: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.830 1.000 18 1994 2014
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.820 1.000 19 1994 2007
dbSNP: rs121918496
rs121918496
4 0.851 0.120 10 121517377 missense variant G/C snv 0.820 1.000 17 1994 2007
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.810 1.000 17 1994 2012
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.810 1.000 17 1994 2007
dbSNP: rs121918505
rs121918505
5 0.851 0.080 10 121520119 missense variant A/G snv 0.810 1.000 17 1994 2019
dbSNP: rs121918490
rs121918490
6 0.851 0.080 10 121517342 missense variant G/C snv 0.810 1.000 16 1994 2007
dbSNP: rs121918492
rs121918492
3 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.810 1.000 16 1994 2007
dbSNP: rs121918493
rs121918493
1 1.000 0.080 10 121517420 missense variant T/C snv 0.800 1.000 18 1994 2016
dbSNP: rs121918489
rs121918489
1 1.000 0.080 10 121517385 missense variant A/G snv 0.800 1.000 16 1994 2007
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.800 1.000 16 1994 2007
dbSNP: rs121918500
rs121918500
1 1.000 0.080 10 121520044 missense variant T/C snv 0.800 1.000 16 1994 2007
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.800 1.000 16 1994 2007
dbSNP: rs387906676
rs387906676
1 1.000 0.080 10 121517394 missense variant C/G;T snv 0.800 1.000 16 1994 2007
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 16 1994 2007
dbSNP: rs1057519036
rs1057519036
2 0.925 0.080 10 121520092 missense variant A/C snv 0.800 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.720 1.000 2 1997 2014
dbSNP: rs121918502
rs121918502
9 0.790 0.160 10 121517351 missense variant G/C snv 0.710 1.000 17 1994 2014
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.710 1.000 10 1995 2015
dbSNP: rs1057519038
rs1057519038
3 0.882 0.120 10 121520076 missense variant T/C snv 0.710 1.000 1 2002 2002
dbSNP: rs1057519043
rs1057519043
4 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs121918507
rs121918507
3 0.882 0.280 10 121498591 missense variant T/C snv 0.710 1.000 1 2005 2005
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.710 1.000 1 1999 1999
dbSNP: rs121918495
rs121918495
2 0.925 0.080 10 121517382 missense variant T/G snv 0.700 1.000 16 1994 2007
dbSNP: rs1554930684
rs1554930684
1 1.000 0.080 10 121520016 missense variant T/C snv 0.700 1.000 16 1994 2007