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: rs61755320
rs61755320
10 0.784 0.357 16 89546737 missense variant C/T snp 2.9E-03 2.7E-03 0.710 1.000 2 2016 2018
dbSNP: rs104894490
rs104894490
4 0.846 0.214 15 22812252 missense variant G/A,C snp 0.700 1 2018 2018
dbSNP: rs1060503428
rs1060503428
10 0.821 0.107 16 89546662 inframe deletion AGGCGGGAGA/A in-del 0.700 1 2018 2018
dbSNP: rs1085307110
rs1085307110
KY
1 1.000 0.071 3 134650909 frameshift variant AC/A in-del 0.700 1 2017 2017
dbSNP: rs121908613
rs121908613
3 0.878 0.107 8 64615716 stop gained A/G,T snp 7.6E-05 3.2E-05 0.700 1 2018 2018
dbSNP: rs200133991
rs200133991
3 0.923 0.071 19 29708290 missense variant C/T snp 1.2E-05 0.700 1 2018 2018
dbSNP: rs312262720
rs312262720
3 0.878 0.107 15 44657230 frameshift variant CAT/C in-del 0.700 1 2018 2018
dbSNP: rs398123012
rs398123012
2 0.923 0.071 9 35738811 missense variant G/A snp 1.6E-05 0.700 1 2018 2018
dbSNP: rs398123015
rs398123015
2 0.923 0.071 9 35737335 missense variant C/T snp 0.700 1 2018 2018
dbSNP: rs562890289
rs562890289
1 1.000 0.071 16 89544770 stop gained C/T snp 1.2E-05 1.3E-04 0.700 1 2018 2018
dbSNP: rs763958615
rs763958615
1 1.000 0.071 8 37753994 missense variant A/G,T snp 8.0E-06 0.700 1 2018 2018
dbSNP: rs768823392
rs768823392
10 0.821 0.107 16 89546657 splice acceptor variant AGGAGAGGCG/A in-del 4.0E-06; 2.6E-04 4.1E-04 0.700 1 2018 2018
dbSNP: rs786200949
rs786200949
1 1.000 0.071 2 240788208 missense variant G/A snp 0.700 1 2016 2016
dbSNP: rs912983346
rs912983346
1 1.000 0.071 16 89513037 missense variant G/C snp 4.4E-06 0.700 1 2018 2018
dbSNP: rs367916692
rs367916692
2 0.923 0.071 8 64596914 missense variant G/A snp 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs587777757
rs587777757
2 0.923 0.071 2 32128450 missense variant A/G snp 0.010 1.000 1 2006 2006
dbSNP: rs66468541
rs66468541
2 0.923 0.071 2 197497275 missense variant C/T snp 0.010 1.000 1 2008 2008
dbSNP: rs768477167
rs768477167
1 1.000 0.071 2 197503236 missense variant A/G,T snp 8.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs770388772
rs770388772
1 1.000 0.071 2 32136629 missense variant A/G snp 0.010 1.000 1 2006 2006
dbSNP: rs78575701
rs78575701
ALB
1 1.000 0.071 4 73417541 missense variant C/T snp 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs864622269
rs864622269
7 0.821 0.214 14 50628394 missense variant C/T snp 4.0E-06 3.2E-05 0.010 1.000 1 2007 2007