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: 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: 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