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: rs193922721
rs193922721
3 0.925 0.120 17 42322413 missense variant T/C snv 0.800 1.000 7 2007 2016
dbSNP: rs397514766
rs397514766
1 1.000 0.120 17 42329621 missense variant G/A snv 0.800 1.000 4 2007 2016
dbSNP: rs113994135
rs113994135
3 0.925 0.120 17 42329643 missense variant G/A snv 0.700 1.000 6 2007 2014
dbSNP: rs113994139
rs113994139
3 0.925 0.120 17 42322474 missense variant C/T snv 0.700 1.000 5 2007 2016
dbSNP: rs886039434
rs886039434
3 0.925 0.120 17 42322404 missense variant A/G snv 0.700 1.000 4 2010 2018
dbSNP: rs193922716
rs193922716
3 0.925 0.120 17 42333719 missense variant G/A snv 0.700 1.000 2 2008 2012
dbSNP: rs869312892
rs869312892
3 0.925 0.120 17 42316899 missense variant G/A snv 0.700 1.000 2 2014 2015
dbSNP: rs869312890
rs869312890
3 0.925 0.120 17 42339328 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1131691476
rs1131691476
2 1.000 0.120 17 42317209 missense variant A/G snv 0.700 0
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.700 0
dbSNP: rs113994137
rs113994137
1 1.000 0.120 17 42329423 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs113994138
rs113994138
1 1.000 0.120 17 42325038 inframe deletion CAC/- delins 0.700 0
dbSNP: rs1555563717
rs1555563717
1 1.000 0.120 17 42322407 missense variant A/T snv 0.700 0
dbSNP: rs1555566820
rs1555566820
2 1.000 0.120 17 42333736 missense variant A/T snv 0.700 0