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: rs63750781
rs63750781
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 1.000 18 1995 2013
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 15 1996 2015
dbSNP: rs63751711
rs63751711
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 15 1996 2010
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 14 1995 2013
dbSNP: rs28929483
rs28929483
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.700 1.000 13 1993 2014
dbSNP: rs267608161
rs267608161
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 12 2006 2016
dbSNP: rs63750437
rs63750437
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 12 1997 2014
dbSNP: rs63750828
rs63750828
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 12 2003 2017
dbSNP: rs63751466
rs63751466
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 1.000 11 1986 2017
dbSNP: rs63751608
rs63751608
3 0.925 0.160 3 37042321 missense variant T/C snv 0.700 1.000 11 1995 2013
dbSNP: rs63751662
rs63751662
3 0.925 0.160 3 37048609 missense variant G/A;T snv 0.700 1.000 11 1999 2016
dbSNP: rs121434629
rs121434629
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 10 2005 2016
dbSNP: rs267607759
rs267607759
2 1.000 0.160 3 37011818 splice acceptor variant A/C;G snv 0.700 1.000 10 1995 2016
dbSNP: rs267607906
rs267607906
4 1.000 0.160 3 37050576 stop gained A/C;G;T snv 0.700 1.000 10 1996 2016
dbSNP: rs267608094
rs267608094
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 10 2005 2016
dbSNP: rs587780059
rs587780059
5 0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 10 2001 2016
dbSNP: rs63750871
rs63750871
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 1995 2016
dbSNP: rs63750875
rs63750875
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 2002 2014
dbSNP: rs63751194
rs63751194
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 10 2001 2010
dbSNP: rs63751657
rs63751657
4 0.925 0.160 3 37042331 splice region variant G/A;C;T snv 0.700 1.000 10 2003 2015
dbSNP: rs193922376
rs193922376
4 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 9 1994 2014
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 9 2008 2017
dbSNP: rs63750610
rs63750610
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 9 2001 2012
dbSNP: rs63750617
rs63750617
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 9 2004 2017
dbSNP: rs267607789
rs267607789
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 8 1995 2010