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: rs72645331
rs72645331
1 1.000 0.120 17 50196661 missense variant C/A snv 0.800 1.000 12 1988 2014
dbSNP: rs72645341
rs72645341
1 1.000 0.120 17 50196525 stop gained C/A;T snv 2.0E-05 1.4E-05 0.800 1.000 12 1988 2014
dbSNP: rs72654802
rs72654802
3 0.882 0.120 17 50188122 missense variant C/T snv 0.710 1.000 14 1992 2017
dbSNP: rs72645362
rs72645362
1 1.000 0.120 17 50195934 missense variant C/A;T snv 2.4E-05 0.710 1.000 12 1988 2014
dbSNP: rs67865220
rs67865220
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.700 1.000 16 1993 2017
dbSNP: rs67507747
rs67507747
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 12 1993 2017
dbSNP: rs72645323
rs72645323
2 0.925 0.120 17 50197027 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645324
rs72645324
1 1.000 0.120 17 50197026 missense variant C/A snv 0.700 1.000 12 1988 2014
dbSNP: rs72645325
rs72645325
1 1.000 0.120 17 50197017 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645340
rs72645340
1 1.000 0.120 17 50196528 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645353
rs72645353
1 1.000 0.120 17 50196198 missense variant C/A;T snv 0.700 1.000 12 1988 2014
dbSNP: rs72648359
rs72648359
1 1.000 0.120 17 50194134 missense variant G/C snv 0.700 1.000 12 1988 2014
dbSNP: rs72651627
rs72651627
1 1.000 0.120 17 50192519 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72651647
rs72651647
2 0.925 0.120 17 50191454 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72656323
rs72656323
1 1.000 0.120 17 50187076 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72656334
rs72656334
1 1.000 0.120 17 50186871 missense variant C/A snv 0.700 1.000 12 1988 2014
dbSNP: rs72656339
rs72656339
1 1.000 0.120 17 50186797 missense variant A/C snv 0.700 1.000 12 1988 2014
dbSNP: rs67693970
rs67693970
3 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 11 1993 2016
dbSNP: rs72645321
rs72645321
2 0.925 0.120 17 50197045 missense variant C/T snv 0.700 1.000 11 1993 2015
dbSNP: rs72659310
rs72659310
3 0.882 0.120 7 94425664 splice donor variant G/A snv 0.700 1.000 11 1984 2018
dbSNP: rs66490707
rs66490707
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 1.000 10 1994 2017
dbSNP: rs72658118
rs72658118
3 0.882 0.120 7 94412095 missense variant G/A snv 0.700 1.000 10 1993 2016
dbSNP: rs72659319
rs72659319
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 1.000 10 1993 2016
dbSNP: rs66619856
rs66619856
3 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 1.000 9 1993 2018
dbSNP: rs1555572640
rs1555572640
1 1.000 0.120 17 50190026 missense variant C/G snv 0.700 1.000 8 1988 2016