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: rs775097754
rs775097754
1 1.000 0.160 5 132378362 intron variant T/A snv 4.0E-05 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs121908893
rs121908893
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.730 1.000 10 2002 2015
dbSNP: rs121908886
rs121908886
1 1.000 0.160 5 132387044 stop gained C/T snv 4.0E-05 4.9E-05 0.700 1.000 8 1999 2017
dbSNP: rs72552727
rs72552727
1 1.000 0.160 5 132378380 stop gained G/A snv 8.0E-06 0.700 1.000 6 1998 2010
dbSNP: rs386134212
rs386134212
1 1.000 0.160 5 132387065 stop gained C/T snv 1.6E-05 0.700 1.000 4 2005 2014
dbSNP: rs121908887
rs121908887
1 1.000 0.160 5 132390838 stop gained -/A delins 0.700 1.000 2 1999 2002
dbSNP: rs72552722
rs72552722
1 1.000 0.160 5 132369984 stop gained C/G snv 8.0E-06 0.700 1.000 2 2002 2006
dbSNP: rs1057516765
rs1057516765
1 1.000 0.160 5 132378475 stop gained C/G snv 0.700 0
dbSNP: rs1057518297
rs1057518297
1 1.000 0.160 5 132390889 stop gained C/T snv 0.700 0
dbSNP: rs1057519051
rs1057519051
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs1253026669
rs1253026669
1 1.000 0.160 5 132370224 stop gained C/G;T snv 0.700 0
dbSNP: rs1321705165
rs1321705165
1 1.000 0.160 5 132370363 stop gained G/A;T snv 1.7E-05 7.0E-06 0.700 0
dbSNP: rs1554085942
rs1554085942
1 1.000 0.160 5 132370157 stop gained G/A snv 0.700 0
dbSNP: rs1554086010
rs1554086010
1 1.000 0.160 5 132370333 stop gained C/T snv 0.700 0
dbSNP: rs1554088165
rs1554088165
1 1.000 0.160 5 132390809 stop gained G/A snv 0.700 0
dbSNP: rs763224132
rs763224132
1 1.000 0.160 5 132393683 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs878853249
rs878853249
1 1.000 0.160 5 132385334 stop gained A/T snv 0.700 0
dbSNP: rs151231558
rs151231558
1 1.000 0.160 5 132378408 missense variant G/A;T snv 1.2E-05; 5.6E-05 0.800 1.000 25 1990 2019
dbSNP: rs202088921
rs202088921
1 1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04 0.800 1.000 24 1999 2017
dbSNP: rs72552725
rs72552725
3 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.800 1.000 24 1999 2017
dbSNP: rs72552726
rs72552726
1 1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05 0.800 1.000 23 1999 2017
dbSNP: rs121908890
rs121908890
1 1.000 0.160 5 132384154 missense variant C/T snv 4.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs72552732
rs72552732
1 1.000 0.160 5 132392484 missense variant C/T snv 1.2E-05 4.2E-05 0.800 1.000 22 1999 2017
dbSNP: rs749282641
rs749282641
1 1.000 0.160 5 132392576 missense variant C/A;T snv 8.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs121908889
rs121908889
1 1.000 0.160 5 132384155 missense variant G/A snv 4.4E-05 2.8E-05 0.800 1.000 21 1999 2017