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: rs79184941
rs79184941
29 0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs121918494
rs121918494
24 0.878 0.107 10 121517363 missense variant G/C snp 0.700 2 1995 2014
dbSNP: rs4647924
rs4647924
20 0.715 0.179 4 1801844 missense variant C/A,G,T snp 4.2E-06; 4.2E-06 3.2E-05; 3.2E-05 0.710 1.000 2 1999 2015
dbSNP: rs77543610
rs77543610
14 0.724 0.071 10 121520160 missense variant G/C snp 0.010 1.000 1 1999 1999
dbSNP: rs28931615
rs28931615
13 0.756 0.214 4 1804426 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs121913478
rs121913478
10 0.756 0.321 10 121515280 missense variant T/C snp 0.010 1.000 1 1995 1995
dbSNP: rs121909627
rs121909627
8 0.769 0.179 8 38424690 missense variant G/C snp 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs374608214
rs374608214
8 0.769 0.071 10 121520010 missense variant G/C snp 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1057519045
rs1057519045
7 0.821 0.179 10 121498522 missense variant T/G snp 0.700 0
dbSNP: rs121918488
rs121918488
6 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.710 1.000 7 1995 2016
dbSNP: rs121918491
rs121918491
5 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 5 1995 2008
dbSNP: rs121918505
rs121918505
5 0.846 0.143 10 121520119 missense variant A/G snp 0.700 0
dbSNP: rs121918487
rs121918487
4 0.846 0.071 10 121517378 missense variant C/A,G,T snp 0.710 1.000 5 1995 2007
dbSNP: rs121918496
rs121918496
3 0.878 0.107 10 121517377 missense variant G/C snp 0.710 1.000 6 1990 2002
dbSNP: rs121918492
rs121918492
3 0.878 0.071 10 121517372 missense variant G/C snp 0.710 1.000 4 1995 1995
dbSNP: rs121918497
rs121918497
3 0.878 0.071 10 121520052 stop lost T/G snp 0.710 1.000 3 1995 2001
dbSNP: rs121918501
rs121918501
3 0.878 0.071 10 121520050 missense variant A/C,G snp 0.710 1.000 3 1995 2013
dbSNP: rs121918507
rs121918507
3 0.878 0.250 10 121498591 missense variant T/C snp 0.710 1.000 2 2005 2006
dbSNP: rs121918490
rs121918490
3 0.923 0.071 10 121517342 missense variant G/C snp 0.700 1 1995 1995
dbSNP: rs121918489
rs121918489
2 0.923 0.071 10 121517385 missense variant A/G snp 0.700 1 1995 1995
dbSNP: rs121918493
rs121918493
2 0.923 0.071 10 121517420 missense variant T/C snp 0.700 1 1995 1995
dbSNP: rs121918500
rs121918500
2 0.923 0.071 10 121520044 missense variant T/C snp 0.700 1 1997 1997
dbSNP: rs387906676
rs387906676
2 0.923 0.071 10 121517394 missense variant C/G,T snp 0.700 1 1998 1998
dbSNP: rs751047267
rs751047267
2 0.923 0.071 10 121496555 missense variant T/C snp 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs1057519036
rs1057519036
2 0.923 0.071 10 121520092 missense variant A/C snp 0.700 0