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: rs867114783
rs867114783
6 17 7675109 missense variant T/C snv 0.700 1.000 6 1998 2007
dbSNP: rs876660807
rs876660807
12 0.763 0.160 17 7674248 missense variant T/C snv 0.700 1.000 6 1994 2010
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 5 2002 2011
dbSNP: rs1131691043
rs1131691043
2 1.000 0.120 17 7675098 missense variant C/A snv 0.700 1.000 5 2005 2016
dbSNP: rs121912657
rs121912657
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 5 1992 2011
dbSNP: rs193920774
rs193920774
22 0.695 0.440 17 7673823 missense variant C/A;T snv 0.700 1.000 5 2001 2014
dbSNP: rs375338359
rs375338359
4 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.700 1.000 5 1994 2015
dbSNP: rs587781525
rs587781525
22 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 5 1998 2011
dbSNP: rs587782490
rs587782490
1 17 7676030 frameshift variant GCCCAGACGGAA/- delins 0.700 1.000 5 1998 2014
dbSNP: rs730882005
rs730882005
20 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 5 2002 2011
dbSNP: rs747342068
rs747342068
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 5 1997 2011
dbSNP: rs786203436
rs786203436
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 5 1994 2011
dbSNP: rs864622237
rs864622237
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 5 1994 2013
dbSNP: rs876660754
rs876660754
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 5 1994 2011
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 5 2002 2013
dbSNP: rs1019340046
rs1019340046
5 0.882 0.080 17 7674225 missense variant C/T snv 0.700 1.000 4 1996 2009
dbSNP: rs1131691026
rs1131691026
3 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 1991 2011
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 4 2010 2014
dbSNP: rs1555525279
rs1555525279
2 1.000 0.120 17 7673795 missense variant A/C snv 0.700 1.000 4 1994 2015
dbSNP: rs587780075
rs587780075
2 1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05 0.700 1.000 4 1992 2012
dbSNP: rs587781991
rs587781991
17 0.724 0.240 17 7675208 missense variant C/A;T snv 0.700 1.000 4 1994 2010
dbSNP: rs730882006
rs730882006
1 17 7674235 missense variant A/G snv 0.700 1.000 4 2002 2010
dbSNP: rs786202752
rs786202752
2 1.000 0.120 17 7675148 missense variant G/C;T snv 0.700 1.000 4 1994 2016
dbSNP: rs1057520006
rs1057520006
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 3 2003 2012