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: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 < 0.001 1 2016 2016
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2001 2001
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2043055
rs2043055
3 0.925 0.080 11 112160901 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs360719
rs360719
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4711998
rs4711998
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs7747909
rs7747909
7 0.790 0.320 6 52189451 3 prime UTR variant G/A snv 0.18 0.010 1.000 1 2015 2015