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: rs587779351
rs587779351
6 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.800 1.000 4 2014 2015
dbSNP: rs797045017
rs797045017
1 1.000 5 83195936 missense variant G/A;T snv 4.1E-06 0.800 0
dbSNP: rs768825050
rs768825050
1 1.000 5 83204849 stop gained C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs779773463
rs779773463
1 1.000 5 83195935 stop gained C/T snv 8.1E-06 4.2E-05 0.700 0
dbSNP: rs797045016
rs797045016
1 1.000 5 83258607 stop gained C/T snv 0.700 0
dbSNP: rs869320677
rs869320677
1 1.000 5 83104943 frameshift variant C/- delins 0.700 0
dbSNP: rs869320678
rs869320678
1 1.000 5 83104909 splice acceptor variant G/T snv 0.700 0
dbSNP: rs879255258
rs879255258
1 1.000 5 83111134 missense variant T/A;G snv 4.1E-06 0.700 0
dbSNP: rs879255259
rs879255259
1 1.000 5 83258544 frameshift variant G/- del 0.700 0