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: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.020 1.000 2 2006 2010
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.020 1.000 2 2002 2010
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.020 1.000 2 2006 2010
dbSNP: rs104893939
rs104893939
2 0.925 0.040 5 147831537 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs111033568
rs111033568
3 0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2002 2002
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 2009 2009