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: rs66555264
rs66555264
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 1.000 8 1993 2015
dbSNP: rs66773001
rs66773001
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 8 1991 2016
dbSNP: rs72645357
rs72645357
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 8 1991 2015
dbSNP: rs72645368
rs72645368
1 1.000 0.120 17 50195611 missense variant C/T snv 0.700 1.000 8 1993 2015
dbSNP: rs72656387
rs72656387
3 0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 8 1993 2017
dbSNP: rs72658185
rs72658185
2 0.925 0.120 7 94421027 missense variant G/A snv 0.700 1.000 8 1993 2016
dbSNP: rs72667031
rs72667031
2 0.925 0.120 17 50197983 missense variant C/A snv 0.700 1.000 8 1993 2009
dbSNP: rs1562905246
rs1562905246
2 0.925 0.120 7 94420595 missense variant G/A snv 0.700 1.000 7 1993 2014
dbSNP: rs67163049
rs67163049
1 1.000 0.120 17 50197234 splice acceptor variant C/A;G;T snv 0.700 1.000 7 1994 2016
dbSNP: rs67682641
rs67682641
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 1.000 7 1992 2016
dbSNP: rs72645366
rs72645366
1 1.000 0.120 17 50195641 stop gained G/A;C snv 4.4E-05 0.700 1.000 7 1998 2015
dbSNP: rs72648337
rs72648337
1 1.000 0.120 17 50194840 intron variant C/T snv 7.0E-06 0.700 1.000 7 1998 2017
dbSNP: rs72656355
rs72656355
3 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 1.000 7 1984 2017
dbSNP: rs72667029
rs72667029
1 1.000 0.120 17 50197992 missense variant C/A snv 0.700 1.000 7 1993 2015
dbSNP: rs1554396361
rs1554396361
2 0.925 0.120 7 94411128 missense variant G/A snv 0.700 1.000 6 1993 2011
dbSNP: rs1554396679
rs1554396679
2 0.925 0.120 7 94413092 missense variant G/A snv 0.700 1.000 6 1993 2009
dbSNP: rs1554396832
rs1554396832
2 0.925 0.120 7 94414222 missense variant G/A;T snv 0.700 1.000 6 1993 2015
dbSNP: rs1554397975
rs1554397975
2 0.925 0.120 7 94422994 missense variant G/A snv 0.700 1.000 6 1993 2016
dbSNP: rs67525025
rs67525025
3 0.882 0.120 7 94408798 missense variant G/A;T snv 0.700 1.000 6 1993 2009
dbSNP: rs67815019
rs67815019
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 6 2007 2017
dbSNP: rs72656360
rs72656360
2 0.925 0.120 7 94404849 missense variant G/A;T snv 7.0E-06 0.700 1.000 6 1993 2014
dbSNP: rs72658177
rs72658177
3 0.882 0.120 7 94420613 missense variant G/T snv 0.700 1.000 6 1993 2009
dbSNP: rs72658194
rs72658194
2 0.925 0.120 7 94423074 missense variant G/A snv 0.700 1.000 6 1993 2009
dbSNP: rs1328384458
rs1328384458
1 1.000 0.120 17 50194626 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1410254723
rs1410254723
2 0.925 0.120 7 94404574 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 1993 2009