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: rs387906920
rs387906920
2 0.925 0.200 3 138946518 stop gained C/A;T snv 0.800 1.000 12 2001 2008
dbSNP: rs797044527
rs797044527
1 1.000 0.200 3 138946073 missense variant G/A snv 0.800 0
dbSNP: rs1057516168
rs1057516168
1 1.000 0.200 3 138946079 missense variant T/C snv 0.710 1.000 1 2004 2004
dbSNP: rs104893739
rs104893739
1 1.000 0.200 3 138946137 stop gained G/A snv 0.700 0
dbSNP: rs104893741
rs104893741
2 0.925 0.200 3 138946068 stop gained G/A snv 0.700 0
dbSNP: rs1057516139
rs1057516139
1 1.000 0.200 3 138946708 stop gained G/T snv 0.700 0
dbSNP: rs1057516140
rs1057516140
1 1.000 0.200 3 138946680 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516141
rs1057516141
1 1.000 0.200 3 138946552 stop gained G/C snv 0.700 0
dbSNP: rs1057516142
rs1057516142
1 1.000 0.200 3 138946550 stop gained G/C;T snv 0.700 0
dbSNP: rs1057516144
rs1057516144
1 1.000 0.200 3 138946536 missense variant T/G snv 0.700 0
dbSNP: rs1057516145
rs1057516145
1 1.000 0.200 3 138946528 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1057516149
rs1057516149
1 1.000 0.200 3 138946431 missense variant A/G snv 0.700 0
dbSNP: rs1057516150
rs1057516150
1 1.000 0.200 3 138946430 stop gained C/T snv 0.700 0
dbSNP: rs1057516151
rs1057516151
1 1.000 0.200 3 138946420 missense variant G/C snv 0.700 0
dbSNP: rs1057516153
rs1057516153
1 1.000 0.200 3 138946412 missense variant T/C snv 0.700 0
dbSNP: rs1057516156
rs1057516156
1 1.000 0.200 3 138946407 missense variant G/A snv 0.700 0
dbSNP: rs1057516157
rs1057516157
1 1.000 0.200 3 138946404 missense variant T/C snv 0.700 0
dbSNP: rs1057516158
rs1057516158
1 1.000 0.200 3 138946385 frameshift variant A/- del 0.700 0
dbSNP: rs1057516159
rs1057516159
6 0.827 0.240 3 138946383 missense variant T/C snv 0.700 0
dbSNP: rs1057516161
rs1057516161
1 1.000 0.200 3 138946146 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516163
rs1057516163
1 1.000 0.200 3 138946141 stop gained G/A;C snv 0.700 0
dbSNP: rs1057516164
rs1057516164
1 1.000 0.200 3 138946111 stop gained C/T snv 0.700 0
dbSNP: rs1057516165
rs1057516165
1 1.000 0.200 3 138946105 frameshift variant T/- del 0.700 0
dbSNP: rs1057516166
rs1057516166
1 1.000 0.200 3 138946071 frameshift variant -/ATAGGGCATGGGTGAGGGAGGC delins 0.700 0
dbSNP: rs1057516167
rs1057516167
1 1.000 0.200 3 138946091 stop gained G/T snv 0.700 0