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: rs761357250
rs761357250
2 0.925 0.120 1 161819693 missense variant C/T snv 1.6E-05 5.6E-05 0.800 1.000 2 2015 2015
dbSNP: rs761129859
rs761129859
2 0.925 0.120 1 161821166 splice region variant G/A;C snv 4.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs796065053
rs796065053
2 0.925 0.120 1 161863292 missense variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs797045170
rs797045170
2 0.925 0.120 1 161766447 splice region variant G/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs797045171
rs797045171
2 0.925 0.120 1 161784094 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797045172
rs797045172
2 0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs797045173
rs797045173
2 0.925 0.120 1 161802157 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs797045174
rs797045174
2 0.925 0.120 1 161821081 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1558022158
rs1558022158
1 1.000 1 161912359 frameshift variant T/- delins 0.700 0
dbSNP: rs869320751
rs869320751
1 1.000 1 161791406 splice region variant -/G delins 0.700 0