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: rs121434629
rs121434629
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.800 1.000 15 2005 2017
dbSNP: rs587779342
rs587779342
3 0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 0.800 1.000 13 1999 2017
dbSNP: rs587779345
rs587779345
2 0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06 0.700 1.000 13 1999 2017
dbSNP: rs1805324
rs1805324
1 1.000 0.160 7 5986899 missense variant C/G;T snv 1.6E-02 0.700 1.000 10 1999 2013
dbSNP: rs267608152
rs267608152
1 1.000 0.160 7 5977643 missense variant A/C;G snv 0.700 1.000 10 1999 2013
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 10 1999 2013
dbSNP: rs267608174
rs267608174
1 1.000 0.160 7 5973460 missense variant C/T snv 0.700 1.000 10 1999 2013
dbSNP: rs587779332
rs587779332
1 1.000 0.160 7 5986777 missense variant T/G snv 0.700 1.000 10 1999 2013
dbSNP: rs587779337
rs587779337
2 1.000 0.160 7 5978622 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs587779341
rs587779341
1 1.000 0.160 7 5999269 missense variant C/T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs63750685
rs63750685
2 0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03 0.700 1.000 10 1999 2013
dbSNP: rs63751466
rs63751466
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 1.000 9 1995 2015
dbSNP: rs587779333
rs587779333
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.700 1.000 6 2008 2016
dbSNP: rs63750695
rs63750695
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 6 2008 2016
dbSNP: rs200640585
rs200640585
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2010 2015
dbSNP: rs267608153
rs267608153
4 0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 2008 2016
dbSNP: rs267608172
rs267608172
4 0.925 0.160 7 5982823 splice donor variant C/A;G;T snv 4.1E-06; 1.6E-05 0.700 1.000 4 2010 2015
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 3 2015 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 3 1998 2016
dbSNP: rs267608154
rs267608154
4 0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins 0.700 1.000 2 2008 2013
dbSNP: rs587779340
rs587779340
7 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 2 2015 2016
dbSNP: rs587781339
rs587781339
3 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 2 2014 2017
dbSNP: rs1057515572
rs1057515572
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs267608173
rs267608173
3 0.925 0.160 7 5978625 frameshift variant TTCT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs63750246
rs63750246
4 0.925 0.160 7 5995574 frameshift variant GT/- delins 0.700 1.000 1 2006 2006