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: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.800 1.000 26 1990 2016
dbSNP: rs121912662
rs121912662
2 0.925 0.120 17 7670678 missense variant A/G snv 0.800 1.000 21 1990 2017
dbSNP: rs121912663
rs121912663
2 0.925 0.120 17 7673745 missense variant T/A;C snv 0.710 1.000 19 1990 2017
dbSNP: rs121912653
rs121912653
2 0.925 0.120 17 7674208 missense variant A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs28934873
rs28934873
3 0.925 0.120 17 7675214 start lost A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs587780075
rs587780075
2 1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05 0.700 1.000 18 1990 2017
dbSNP: rs149633775
rs149633775
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs28934577
rs28934577
2 1.000 0.120 17 7674193 missense variant A/C;G;T snv 0.700 1.000 11 1990 2014
dbSNP: rs28934875
rs28934875
2 0.925 0.120 17 7675200 missense variant C/G snv 0.800 1.000 11 1990 2014
dbSNP: rs534447939
rs534447939
1 1.000 0.120 17 7676124 missense variant G/A;C snv 2.0E-05 7.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs55863639
rs55863639
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 11 1992 2016
dbSNP: rs786202752
rs786202752
2 1.000 0.120 17 7675148 missense variant G/C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs786204041
rs786204041
2 1.000 0.120 17 7674942 missense variant C/A;G;T snv 0.700 1.000 11 1990 2014
dbSNP: rs878854074
rs878854074
1 1.000 0.120 17 7674210 missense variant G/A;C snv 0.700 1.000 11 1990 2014
dbSNP: rs144340710
rs144340710
2 1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04 0.710 1.000 10 1990 2017
dbSNP: rs112431538
rs112431538
4 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 9 1997 2015
dbSNP: rs1064795203
rs1064795203
2 1.000 0.120 17 7675080 missense variant G/C;T snv 0.700 1.000 6 2003 2018
dbSNP: rs866380588
rs866380588
1 1.000 0.120 17 7674957 stop gained G/A snv 0.700 1.000 6 2010 2016
dbSNP: rs1555525703
rs1555525703
1 1.000 0.120 17 7674857 splice donor variant A/T snv 0.700 1.000 4 2003 2013
dbSNP: rs1567553501
rs1567553501
1 1.000 0.120 17 7675138 missense variant GC/AA mnv 0.700 1.000 4 2003 2015
dbSNP: rs755394212
rs755394212
1 1.000 0.120 17 7670649 stop gained G/A;T snv 2.0E-05 0.700 1.000 4 2010 2015
dbSNP: rs17882252
rs17882252
2 0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05 0.700 1.000 3 1998 2016
dbSNP: rs587781664
rs587781664
2 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 3 2010 2015
dbSNP: rs11575996
rs11575996
2 1.000 0.120 17 7673535 missense variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs1555526470
rs1555526470
1 1.000 0.120 17 7675992 splice region variant -/C delins 0.700 1.000 2 2007 2010