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: rs751037529
rs751037529
3 0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05 0.810 1.000 2 2013 2016
dbSNP: rs34424986
rs34424986
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.800 1.000 33 1998 2015
dbSNP: rs137853054
rs137853054
4 0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06 0.800 1.000 32 1998 2015
dbSNP: rs137853057
rs137853057
1 1.000 0.040 6 162201182 missense variant T/A snv 0.800 1.000 21 1998 2013
dbSNP: rs137853058
rs137853058
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.800 1.000 21 1998 2013
dbSNP: rs137853060
rs137853060
1 1.000 0.040 6 161973403 missense variant T/A snv 2.0E-05 0.800 1.000 21 1998 2013
dbSNP: rs397514694
rs397514694
1 1.000 0.040 6 161350205 missense variant C/A snv 0.800 1.000 21 1998 2013
dbSNP: rs55774500
rs55774500
1 1.000 0.040 6 162262692 missense variant G/A;T snv 8.0E-06; 3.6E-03 0.800 1.000 21 1998 2013
dbSNP: rs191486604
rs191486604
1 1.000 0.040 6 161350208 missense variant C/T snv 6.0E-05 1.3E-04 0.800 1.000 12 2004 2015
dbSNP: rs147757966
rs147757966
2 0.925 0.040 6 162443383 missense variant C/A;G;T snv 4.0E-06; 8.8E-05 0.800 1.000 9 2005 2016
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.720 1.000 23 1998 2013
dbSNP: rs137853055
rs137853055
1 1.000 0.040 6 161569357 stop gained G/A snv 0.710 1.000 1 1998 1998
dbSNP: rs137853059
rs137853059
1 1.000 0.040 6 162443314 missense variant A/T snv 1.6E-05 2.1E-05 0.700 1.000 21 1998 2013
dbSNP: rs149953814
rs149953814
1 1.000 0.040 6 161350187 missense variant G/A snv 1.6E-03 2.2E-03 0.700 1.000 21 1998 2013
dbSNP: rs55830907
rs55830907
1 1.000 0.040 6 161360169 missense variant G/A snv 1.9E-03 1.9E-03 0.700 1.000 21 1998 2013
dbSNP: rs148990138
rs148990138
1 1.000 0.040 6 162443371 missense variant G/A snv 1.9E-04 2.4E-04 0.700 1.000 20 1998 2011
dbSNP: rs150562946
rs150562946
3 0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04 0.700 1.000 20 1998 2011
dbSNP: rs532703934
rs532703934
1 1.000 0.040 6 162443438 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1998 2011
dbSNP: rs566229879
rs566229879
1 1.000 0.040 6 162262662 missense variant G/A snv 1.2E-05 0.700 1.000 20 1998 2011
dbSNP: rs778125254
rs778125254
1 1.000 0.040 6 161360129 missense variant G/T snv 8.0E-06 0.700 1.000 20 1998 2011
dbSNP: rs778305273
rs778305273
1 1.000 0.040 6 161350176 missense variant A/G snv 5.2E-05 0.700 1.000 20 1998 2011
dbSNP: rs754809877
rs754809877
1 1.000 0.040 6 162443326 frameshift variant T/- delins 3.1E-04 0.700 1.000 11 1999 2016
dbSNP: rs1562430103
rs1562430103
1 1.000 0.040 6 161973301 splice donor variant C/T snv 0.700 1.000 2 1999 2012
dbSNP: rs9456735
rs9456735
1 1.000 0.040 6 162054135 start lost T/A;G snv 4.0E-06; 4.4E-03 0.700 1.000 1 2013 2013
dbSNP: rs137853056
rs137853056
1 1.000 0.040 6 161350139 stop gained C/T snv 0.700 0