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 0.710 1.000 39 1996 2013
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 25 1995 2018
dbSNP: rs63751194
rs63751194
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 25 1999 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.957 23 2004 2019
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 19 1995 2014
dbSNP: rs63749932
rs63749932
5 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs587779075
rs587779075
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 15 1975 2017
dbSNP: rs63749795
rs63749795
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63750138
rs63750138
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.720 1.000 13 2001 2019
dbSNP: rs63750828
rs63750828
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 13 2003 2017
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 13 1995 2016
dbSNP: rs63751275
rs63751275
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 13 2002 2017
dbSNP: rs63751711
rs63751711
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 13 1996 2016
dbSNP: rs63749843
rs63749843
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 12 2002 2018
dbSNP: rs63749909
rs63749909
4 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 12 1996 2015
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 12 2006 2017
dbSNP: rs63750792
rs63750792
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 12 1999 2013
dbSNP: rs63750875
rs63750875
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.760 1.000 12 2004 2012
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 12 2003 2017
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 11 2005 2016
dbSNP: rs63750453
rs63750453
5 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 11 2001 2015
dbSNP: rs63751207
rs63751207
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 11 1994 2012
dbSNP: rs63750437
rs63750437
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 10 1997 2014
dbSNP: rs63750641
rs63750641
2 0.925 0.160 3 37000997 missense variant A/G snv 0.700 1.000 10 1999 2010