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: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.100 1.000 10 2001 2012
dbSNP: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.060 1.000 6 2001 2017
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.060 1.000 6 2001 2017
dbSNP: rs10273639
rs10273639
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.040 0.750 4 2015 2020
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1554499091
rs1554499091
2 0.925 0.040 7 142751884 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs199769221
rs199769221
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs202003805
rs202003805
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs387906698
rs387906698
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs752688735
rs752688735
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2006 2006