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: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.100 0.982 56 2003 2017
dbSNP: rs1867277
rs1867277
4 0.846 0.071 9 97853632 5 prime UTR variant A/G snp 0.64 0.040 1.000 4 2009 2016
dbSNP: rs17879961
rs17879961
33 0.615 0.321 22 28725099 missense variant A/C,G snp 4.1E-03 1.1E-02 0.020 1.000 2 2005 2015
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.020 0.500 2 2014 2015
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 0.500 2 2014 2015
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.020 0.500 2 2014 2015
dbSNP: rs71369530
rs71369530
2 0.923 0.071 9 97854446 inframe deletion CGCCGCC/C in-del 0.020 1.000 2 2014 2014
dbSNP: rs944289
rs944289
8 0.821 0.071 14 36180040 intergenic variant C/T snp 0.48 0.020 1.000 2 2015 2016
dbSNP: rs965513
rs965513
10 0.784 0.107 9 97793827 intergenic variant A/G,T snp 0.72 0.020 1.000 2 2015 2016
dbSNP: rs11077
rs11077
11 0.744 0.321 6 43523209 3 prime UTR variant T/G snp 0.47 0.010 1.000 1 2017 2017
dbSNP: rs112431538
rs112431538
5 0.846 0.179 17 7673767 missense variant C/T snp 0.010 < 0.001 1 2012 2012
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs12628
rs12628
6 0.821 0.143 11 534242 synonymous variant A/G snp 0.32 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1443434
rs1443434
2 0.923 0.071 9 97855197 3 prime UTR variant G/T snp 0.64 0.010 1.000 1 2016 2016
dbSNP: rs17882252
rs17882252
5 0.846 0.143 17 7670694 missense variant C/G,T snp 8.0E-06; 6.4E-05 6.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs187238
rs187238
18 0.692 0.393 11 112164265 intron variant C/A,G snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1946518
rs1946518
14 0.707 0.357 11 112164735 intron variant T/G snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1946519
rs1946519
2 0.923 0.071 11 112164784 intron variant A/C snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs2066827
rs2066827
15 0.707 0.250 12 12718165 missense variant T/A,C,G snp 1.6E-04; 1.6E-05; 0.26 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880
24 0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43 0.010 1.000 1 2016 2016
dbSNP: rs2439302
rs2439302
3 0.878 0.071 8 32574851 intron variant G/C snp 0.54 0.010 1.000 1 2015 2015
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs34330
rs34330
8 0.769 0.179 12 12717761 5 prime UTR variant T/C snp 0.69 0.010 1.000 1 2010 2010
dbSNP: rs360717
rs360717
2 0.923 0.071 11 112164002 5 prime UTR variant G/A snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs360718
rs360718
4 0.846 0.107 11 112164016 5 prime UTR variant A/C snp 0.26 0.010 1.000 1 2016 2016