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 0.820 0.667 3 2012 2020
dbSNP: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.100 0.800 10 2000 2020
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.100 0.800 10 2000 2020
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.060 1.000 6 2001 2011
dbSNP: rs111033567
rs111033567
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020
dbSNP: rs199769221
rs199769221
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.040 1.000 4 1997 1999
dbSNP: rs202003805
rs202003805
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.040 1.000 4 2000 2010
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.030 1.000 3 1999 2011
dbSNP: rs387906698
rs387906698
8 0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.020 1.000 2 2001 2005
dbSNP: rs397507442
rs397507442
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
dbSNP: rs111033564
rs111033564
2 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs111033568
rs111033568
3 0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs145867820
rs145867820
1 1.000 0.040 7 142751775 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs199422123
rs199422123
2 0.925 0.040 7 142751934 missense variant G/A;T snv 2.0E-05 0.010 1.000 1 2010 2010