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: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1225976306
rs1225976306
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs1639679
rs1639679
1 1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs397507482
rs397507482
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs121913369
rs121913369
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2002 2014
dbSNP: rs1057519718
rs1057519718
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.700 1.000 3 2002 2010
dbSNP: rs121913337
rs121913337
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 1.000 3 2002 2014
dbSNP: rs1057519720
rs1057519720
4 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 0.700 1.000 2 2005 2014
dbSNP: rs121913349
rs121913349
2 0.925 0.200 7 140781618 missense variant C/G;T snv 0.700 1.000 2 2014 2014
dbSNP: rs121913363
rs121913363
1 1.000 0.040 7 140753361 missense variant T/C snv 0.700 1.000 2 2014 2015
dbSNP: rs121913371
rs121913371
3 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 2 2002 2003
dbSNP: rs121913225
rs121913225
1 1.000 0.040 7 140753351 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913226
rs121913226
1 1.000 0.040 7 140753332 inframe deletion TTT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913341
rs121913341
5 0.851 0.280 7 140753350 missense variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913361
rs121913361
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913365
rs121913365
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913372
rs121913372
1 1.000 0.040 7 140753321 missense variant CT/AA mnv 0.700 1.000 1 2014 2014
dbSNP: rs121913373
rs121913373
1 1.000 0.040 7 140753321 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913376
rs121913376
2 0.925 0.080 7 140781597 missense variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs397507484
rs397507484
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs794729219
rs794729219
3 0.882 0.240 7 140753352 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913378
rs121913378
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 15 2002 2014