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: rs10273639
rs10273639
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.030 1.000 3 2017 2020
dbSNP: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.030 1.000 3 2006 2012
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2006 2012
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs752688735
rs752688735
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2011 2011