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: rs111033566
rs111033566
1 0.742 0.280 7 142750600 missense variant A/C;T snv 0.900 1.000 11 1996 2015
dbSNP: rs267606982
rs267606982
1 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.900 1.000 11 1996 2012
dbSNP: rs202003805
rs202003805
1 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.840 1.000 11 1996 2012
dbSNP: rs111033567
rs111033567
1 0.882 0.040 7 142750582 missense variant A/G snv 0.820 1.000 11 1996 2015
dbSNP: rs111033568
rs111033568
1 0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05 0.820 1.000 11 1996 2018
dbSNP: rs387906698
rs387906698
1 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.820 1.000 11 1996 2009
dbSNP: rs111033564
rs111033564
1 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.710 1.000 11 1996 2017
dbSNP: rs144422014
rs144422014
1 1.000 0.040 7 142750675 missense variant A/G snv 0.700 1.000 11 1996 2005
dbSNP: rs1554499091
rs1554499091
1 0.925 0.040 7 142751884 missense variant T/C snv 0.700 1.000 11 1996 2005