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: rs28934880
rs28934880
1 1.000 0.200 1 119415448 missense variant C/A;T snv 1.2E-05; 4.0E-06 0.810 1.000 17 1993 2012
dbSNP: rs121964897
rs121964897
1 1.000 0.200 1 119422523 missense variant C/T snv 0.800 1.000 17 1993 2012
dbSNP: rs80358219
rs80358219
1 1.000 0.200 1 119421925 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.800 0
dbSNP: rs80358220
rs80358220
1 1.000 0.200 1 119422165 missense variant C/A;G snv 4.0E-06 0.800 0
dbSNP: rs80358221
rs80358221
1 1.000 0.200 1 119422277 missense variant C/T snv 1.2E-05 1.4E-05 0.800 0
dbSNP: rs765547422
rs765547422
2 0.925 0.200 1 119422166 missense variant C/A snv 1.2E-05 0.710 1.000 18 1993 2014
dbSNP: rs762479018
rs762479018
1 1.000 0.200 1 119422019 missense variant T/G snv 2.8E-05 4.2E-05 0.710 1.000 17 1993 2012
dbSNP: rs1388517943
rs1388517943
1 1.000 0.200 1 119419574 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 17 1993 2012
dbSNP: rs1399005702
rs1399005702
1 1.000 0.200 1 119422258 missense variant T/A snv 1.2E-05 0.700 1.000 17 1993 2012
dbSNP: rs1411029929
rs1411029929
1 1.000 0.200 1 119422261 missense variant T/A;G snv 4.0E-06; 4.0E-06 0.700 1.000 17 1993 2012
dbSNP: rs757033996
rs757033996
3 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 17 1993 2012
dbSNP: rs767128094
rs767128094
1 1.000 0.200 1 119422565 stop gained G/A snv 8.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs121964896
rs121964896
1 1.000 0.200 1 119422243 missense variant GT/AA mnv 0.700 0
dbSNP: rs35486059
rs35486059
1 1.000 0.200 1 119422001 missense variant C/A;T snv 4.0E-06; 1.4E-03 0.700 0
dbSNP: rs35887327
rs35887327
1 1.000 0.200 1 119422208 missense variant T/C snv 3.0E-03 1.3E-02 0.700 0
dbSNP: rs587628683
rs587628683
1 1.000 0.200 1 119421886 missense variant G/A snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs759422374
rs759422374
1 1.000 0.200 1 119422138 missense variant A/G snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs779418168
rs779418168
1 1.000 0.200 1 119421965 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs80358216
rs80358216
1 1.000 0.200 1 119422013 stop gained G/A snv 0.700 0
dbSNP: rs80358218
rs80358218
1 1.000 0.200 1 119422620 stop lost A/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1351141519
rs1351141519
3 0.882 0.200 2 25161718 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1465262924
rs1465262924
2 0.925 0.240 1 6281155 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs201988564
rs201988564
2 0.925 0.240 5 128464739 missense variant T/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2002 2002
dbSNP: rs756607591
rs756607591
3 0.882 0.200 1 119415454 missense variant G/A snv 4.0E-06 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs905880501
rs905880501
5 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012