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: rs104894135
rs104894135
1 1.000 0.200 10 102835374 missense variant A/G snv 8.0E-06 0.810 1.000 18 1989 2015
dbSNP: rs61754278
rs61754278
2 0.925 0.200 10 102832610 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 19 1989 2015
dbSNP: rs104894138
rs104894138
3 0.882 0.240 10 102837076 missense variant G/A snv 2.8E-05 4.9E-05 0.800 1.000 18 1989 2015
dbSNP: rs104894143
rs104894143
3 0.882 0.240 10 102831535 missense variant A/G snv 7.0E-06 0.720 1.000 20 1989 2016
dbSNP: rs104894142
rs104894142
3 0.882 0.200 10 102832566 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 19 1989 2015
dbSNP: rs104894145
rs104894145
3 0.925 0.240 10 102830946 missense variant G/A snv 0.710 1.000 19 1989 2016
dbSNP: rs760695410
rs760695410
6 0.807 0.240 10 102832532 missense variant T/A snv 1.2E-05; 4.0E-06 0.710 1.000 18 1989 2015
dbSNP: rs777638364
rs777638364
1 1.000 0.200 10 102830910 missense variant C/T snv 5.1E-06 0.710 1.000 18 1989 2015
dbSNP: rs104894137
rs104894137
3 0.882 0.200 10 102832626 missense variant G/T snv 0.700 1.000 18 1989 2015
dbSNP: rs104894139
rs104894139
1 1.000 0.200 10 102832577 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 18 1989 2015
dbSNP: rs104894140
rs104894140
2 0.925 0.200 10 102830979 missense variant A/C snv 0.700 1.000 18 1989 2015
dbSNP: rs104894144
rs104894144
1 1.000 0.200 10 102832665 missense variant A/C;T snv 2.8E-05 0.700 1.000 18 1989 2015
dbSNP: rs104894146
rs104894146
1 1.000 0.200 10 102837084 missense variant A/C snv 0.700 1.000 18 1989 2015
dbSNP: rs104894147
rs104894147
1 1.000 0.200 10 102835350 missense variant A/C snv 0.700 1.000 18 1989 2015
dbSNP: rs104894148
rs104894148
2 0.925 0.200 10 102835343 missense variant T/A snv 0.700 1.000 18 1989 2015
dbSNP: rs104894149
rs104894149
1 1.000 0.200 10 102832611 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 18 1989 2015
dbSNP: rs104894153
rs104894153
1 1.000 0.200 10 102837075 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 18 1989 2015
dbSNP: rs1423560123
rs1423560123
1 1.000 0.200 10 102832533 missense variant G/T snv 0.700 1.000 18 1989 2015
dbSNP: rs763398879
rs763398879
2 0.925 0.200 10 102830742 missense variant C/A;T snv 4.1E-06; 8.3E-06 0.700 1.000 18 1989 2015
dbSNP: rs756135168
rs756135168
1 1.000 0.200 10 102830762 inframe deletion AAGAGTCGA/- delins 1.4E-05 0.700 1.000 6 2003 2017
dbSNP: rs556794126
rs556794126
1 1.000 0.200 10 102830790 frameshift variant -/GATG delins 2.5E-05 2.1E-05 0.700 1.000 3 1988 1992
dbSNP: rs1060499582
rs1060499582
1 1.000 0.200 10 102831589 stop gained T/A;C snv 0.700 1.000 1 2005 2005
dbSNP: rs1183147390
rs1183147390
1 1.000 0.200 10 102837171 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs1250463562
rs1250463562
2 0.925 0.200 10 102830743 missense variant G/A snv 0.700 0
dbSNP: rs1554879846
rs1554879846
1 1.000 0.200 10 102831510 missense variant G/A snv 0.700 0