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: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1557787212
rs1557787212
1 1.000 0.120 1 17157671 intergenic variant G/T snv 0.700 0
dbSNP: rs1566328963
rs1566328963
1 1.000 0.120 13 37047903 stop gained T/A snv 0.700 0
dbSNP: rs3766379
rs3766379
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.700 0
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.060 0.833 6 1998 2017
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.020 1.000 2 1998 1999
dbSNP: rs63750306
rs63750306
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 < 0.001 1 1999 1999
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.030 0.667 3 2000 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2000 2004
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.964 28 2001 2018
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.020 1.000 2 2002 2006
dbSNP: rs1800450
rs1800450
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.020 1.000 2 2002 2012
dbSNP: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.020 0.500 2 2002 2007
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs139620474
rs139620474
1 1.000 0.120 20 46009878 missense variant C/A;T snv 1.9E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs1800451
rs1800451
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2002 2002
dbSNP: rs4149637
rs4149637
4 0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03 0.010 1.000 1 2002 2002
dbSNP: rs560051377
rs560051377
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs761026187
rs761026187
1 1.000 0.120 10 52771542 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs781530030
rs781530030
1 1.000 0.120 19 852906 missense variant G/A snv 4.6E-06 0.010 1.000 1 2002 2002
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2003 2003