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: rs28938469
rs28938469
3 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 27 1996 2015
dbSNP: rs72559734
rs72559734
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 25 1996 2016
dbSNP: rs1554933168
rs1554933168
1 1.000 0.120 11 17442842 missense variant A/G snv 0.800 1.000 24 1996 2015
dbSNP: rs1446306735
rs1446306735
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.800 1.000 23 1996 2015
dbSNP: rs1221760584
rs1221760584
1 1.000 0.120 11 17393088 missense variant A/T snv 4.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.800 1.000 20 1996 2015
dbSNP: rs137852676
rs137852676
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 20 1996 2015
dbSNP: rs1554904565
rs1554904565
1 1.000 0.120 11 17395234 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs28936370
rs28936370
2 0.925 0.120 11 17396980 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.800 1.000 20 1996 2015
dbSNP: rs387906407
rs387906407
2 0.925 0.120 11 17395610 missense variant C/G;T snv 0.800 1.000 20 1996 2015
dbSNP: rs542157938
rs542157938
1 1.000 0.120 11 17397296 missense variant G/A;T snv 4.4E-05 0.700 1.000 20 1996 2015
dbSNP: rs72559721
rs72559721
1 1.000 0.120 11 17407407 missense variant G/A snv 0.700 1.000 20 1996 2015
dbSNP: rs72559723
rs72559723
1 1.000 0.120 11 17427124 missense variant C/A;T snv 0.800 1.000 20 1996 2015
dbSNP: rs72559726
rs72559726
1 1.000 0.120 11 17430858 missense variant G/C snv 0.700 1.000 20 1996 2015
dbSNP: rs72559727
rs72559727
1 1.000 0.120 11 17442827 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs72559728
rs72559728
1 1.000 0.120 11 17448632 missense variant T/C snv 0.700 1.000 20 1996 2015
dbSNP: rs72559731
rs72559731
1 1.000 0.120 11 17470167 missense variant C/G snv 0.700 1.000 20 1996 2015
dbSNP: rs769279368
rs769279368
2 0.925 0.120 11 17395872 missense variant C/A;T snv 3.9E-05 0.700 1.000 20 1996 2015
dbSNP: rs773448052
rs773448052
1 1.000 0.120 11 17395909 missense variant C/T snv 9.8E-06 0.700 1.000 20 1996 2015
dbSNP: rs781059815
rs781059815
1 1.000 0.120 11 17476758 missense variant C/G;T snv 5.0E-06; 5.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs151344623
rs151344623
3 0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04 0.700 1.000 16 1995 2014
dbSNP: rs151344624
rs151344624
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 8 1996 2011
dbSNP: rs797045213
rs797045213
1 1.000 0.120 11 17463454 missense variant T/C snv 0.800 1.000 7 1998 2016
dbSNP: rs746480424
rs746480424
1 1.000 0.120 11 17394333 missense variant C/A;T snv 8.0E-06 0.700 1.000 6 2003 2016
dbSNP: rs863225280
rs863225280
2 0.925 0.120 11 17461722 missense variant C/T snv 0.700 1.000 5 2005 2013