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: 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 18 2004 2017
dbSNP: rs63749873
rs63749873
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 14 1999 2015
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 13 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 9 2006 2016
dbSNP: rs63750909
rs63750909
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2004 2017
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 8 2008 2017
dbSNP: rs587779279
rs587779279
3 1.000 0.160 2 47806203 splice acceptor variant G/A snv 0.700 1.000 7 2009 2016
dbSNP: rs63750138
rs63750138
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 7 1994 2015
dbSNP: rs63750741
rs63750741
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 7 2004 2016
dbSNP: rs1316409501
rs1316409501
2 1.000 0.160 2 47803663 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 2005 2017
dbSNP: rs267608122
rs267608122
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 6 1999 2016
dbSNP: rs63749999
rs63749999
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 1.000 6 1999 2016
dbSNP: rs786201042
rs786201042
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 6 2010 2018
dbSNP: rs587782386
rs587782386
1 2 47800909 missense variant C/T snv 7.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs63750949
rs63750949
6 0.827 0.080 2 47806213 missense variant C/A;T snv 0.700 1.000 5 2002 2013
dbSNP: rs63751113
rs63751113
2 1.000 0.080 2 47800910 missense variant G/A snv 0.700 1.000 5 2002 2015
dbSNP: rs63751127
rs63751127
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2004 2016
dbSNP: rs63751328
rs63751328
2 1.000 0.160 2 47805638 missense variant G/A;C snv 4.0E-06 0.700 1.000 5 2004 2012
dbSNP: rs1553408388
rs1553408388
2 2 47783453 stop gained G/T snv 0.700 1.000 4 2006 2015
dbSNP: rs200492211
rs200492211
3 1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 2010 2015
dbSNP: rs267608131
rs267608131
3 1.000 0.160 2 47806653 splice donor variant T/C snv 2.9E-05 0.700 1.000 4 2009 2015
dbSNP: rs587779204
rs587779204
3 1.000 0.160 2 47799092 missense variant T/C snv 0.700 1.000 4 2013 2017
dbSNP: rs587779220
rs587779220
1 2 47799737 missense variant T/C snv 0.700 1.000 4 2007 2015
dbSNP: rs587779263
rs587779263
3 1.000 0.160 2 47804909 splice acceptor variant G/T snv 0.700 1.000 4 2010 2015
dbSNP: rs63749843
rs63749843
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 4 2002 2014