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: rs121908106
rs121908106
2 0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 0.820 1.000 7 2008 2018
dbSNP: rs121908103
rs121908103
1 1.000 0.200 18 50036982 missense variant A/C;G snv 0.800 1.000 6 2008 2014
dbSNP: rs121908105
rs121908105
1 1.000 0.200 18 49936289 missense variant G/A;C;T snv 1.7E-05; 1.3E-05; 2.2E-05 0.800 1.000 6 2008 2014
dbSNP: rs1555648414
rs1555648414
1 1.000 0.200 18 49974470 missense variant C/T snv 0.700 1.000 6 2008 2014
dbSNP: rs727505394
rs727505394
1 1.000 0.200 18 49936250 splice donor variant A/G;T snv 4.7E-06 0.700 1.000 1 2008 2008
dbSNP: rs727505395
rs727505395
1 1.000 0.200 18 49878940 splice region variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1053713532
rs1053713532
1 1.000 0.200 18 49992388 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121908104
rs121908104
1 1.000 0.200 18 49974547 stop gained C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs1283622290
rs1283622290
1 1.000 0.200 18 49974369 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1324907355
rs1324907355
1 1.000 0.200 18 50001365 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1555793103
rs1555793103
4 0.882 0.240 18 49836710 splice donor variant C/G snv 0.700 0
dbSNP: rs1555793199
rs1555793199
4 0.882 0.240 18 49837750 frameshift variant G/- delins 0.700 0
dbSNP: rs1568049625
rs1568049625
1 1.000 0.200 18 49963032 splice acceptor variant T/C snv 0.700 0
dbSNP: rs753558336
rs753558336
1 1.000 0.200 18 49984718 missense variant C/T snv 6.8E-05 2.8E-05 0.700 0
dbSNP: rs762039116
rs762039116
1 1.000 0.200 18 49839231 stop gained C/A;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs1396499970
rs1396499970
1 1.000 0.200 13 69707647 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018