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: rs776095655
rs776095655
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.710 1.000 1 2016 2016
dbSNP: rs367619008
rs367619008
3 0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs587779766
rs587779766
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs746536347
rs746536347
3 0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs758432471
rs758432471
4 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80356730
rs80356730
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs869312821
rs869312821
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312822
rs869312822
8 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312826
rs869312826
6 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs139073416
rs139073416
9 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
dbSNP: rs150726175
rs150726175
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs1553154130
rs1553154130
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1557569831
rs1557569831
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1557607997
rs1557607997
4 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0
dbSNP: rs1557612048
rs1557612048
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0