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: rs12711521
rs12711521
6 0.821 0.179 1 11030859 missense variant C/A snp 0.74 0.64 0.010 1.000 1 2013 2013
dbSNP: rs172378
rs172378
5 0.846 0.143 1 22638945 synonymous variant A/G snp 0.49 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1800896
rs1800896
43 0.593 0.571 1 206773552 intergenic variant T/C snp 0.40 0.010 1.000 1 2015 2015
dbSNP: rs372411058
rs372411058
1 1.000 0.107 1 161626395 synonymous variant C/T snp 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2013 2013
dbSNP: rs587776632
rs587776632
1 1.000 0.107 1 85267902 frameshift variant A/AAA in-del 0.700 1 1999 1999
dbSNP: rs587776633
rs587776633
1 1.000 0.107 1 85270733 frameshift variant T/TT in-del 0.700 1 1999 1999
dbSNP: rs587776634
rs587776634
1 1.000 0.107 1 85267788 frameshift variant CTGCCTACTTCTAGAACA/C in-del 0.700 1 1999 1999
dbSNP: rs587776635
rs587776635
1 1.000 0.107 1 85267919 frameshift variant AT/A in-del 0.700 1 1999 1999
dbSNP: rs587776636
rs587776636
1 1.000 0.107 1 85267931 frameshift variant A/AA in-del 0.700 1 1999 1999
dbSNP: rs587776637
rs587776637
1 1.000 0.107 1 85267692 inframe deletion CCTT/C in-del 0.700 1 1999 1999
dbSNP: rs3789068
rs3789068
2 0.923 0.107 2 111151670 intron variant A/G snp 0.44 0.010 1.000 1 2009 2009
dbSNP: rs2681416
rs2681416
10 0.744 0.107 3 122098766 intron variant G/A snp 0.26 0.700 1 2014 2014
dbSNP: rs6444305
rs6444305
LPP
7 0.784 0.107 3 188582114 intron variant G/A,C,T snp 0.69 0.710 1.000 1 2014 2014
dbSNP: rs1056503
rs1056503
3 0.878 0.143 5 83353158 synonymous variant T/A,G snp 4.0E-06; 0.23 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1805377
rs1805377
8 0.769 0.250 5 83353124 splice acceptor variant G/A snp 0.23 0.25 0.010 1.000 1 2016 2016
dbSNP: rs10484561
rs10484561
9 0.769 0.143 6 32697643 intergenic variant T/G snp 0.13 0.820 1.000 3 2010 2013
dbSNP: rs2647012
rs2647012
13 0.715 0.321 6 32696681 intergenic variant T/C snp 0.63 0.820 0.500 3 2011 2013
dbSNP: rs6457327
rs6457327
11 0.744 0.179 6 31106253 intergenic variant A/C snp 0.65 0.830 1.000 3 2009 2015
dbSNP: rs12195582
rs12195582
7 0.784 0.107 6 32476767 intergenic variant C/T snp 0.42 0.700 1 2014 2014
dbSNP: rs12717
rs12717
2 0.923 0.143 6 170553212 missense variant G/C snp 0.42 0.39 0.010 1.000 1 2018 2018
dbSNP: rs13198610
rs13198610
7 0.784 0.107 6 32457895 intergenic variant G/T snp 0.13 0.700 1 2013 2013
dbSNP: rs28530648
rs28530648
7 0.784 0.107 6 32559302 intron variant A/C,T snp 0.12 0.700 1 2013 2013
dbSNP: rs2855429
rs2855429
2 0.923 0.107 6 33190412 intron variant A/C snp 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2857597
rs2857597
3 0.878 0.179 6 31617223 intergenic variant T/A snp 0.74 0.010 1.000 1 2011 2011