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: rs1057518908
rs1057518908
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs104893915
rs104893915
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.030 0.667 3 1999 2001
dbSNP: rs766335907
rs766335907
4 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.020 0.500 2 1999 2001
dbSNP: rs104893645
rs104893645
2 0.925 0.080 2 20005953 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs28936368
rs28936368
3 0.882 0.080 19 18783129 missense variant G/A;T snv 8.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs3776070
rs3776070
1 1.000 0.080 5 149981658 missense variant A/G;T snv 4.0E-05; 0.17 0.010 1.000 1 2014 2014
dbSNP: rs781754383
rs781754383
EGF
3 0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015