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: rs139953766
rs139953766
1 1.000 0.160 2 148469905 missense variant C/A;T snv 3.6E-05 0.700 1.000 2 2007 2012
dbSNP: rs139964770
rs139964770
1 1.000 0.160 2 148469325 missense variant G/A snv 3.9E-04 4.1E-04 0.700 1.000 2 2007 2012
dbSNP: rs145475623
rs145475623
1 1.000 0.160 2 148489474 missense variant C/T snv 4.8E-04 3.3E-04 0.700 1.000 2 2007 2012
dbSNP: rs1553517991
rs1553517991
1 1.000 0.160 2 148463920 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1553518402
rs1553518402
1 1.000 0.160 2 148468374 missense variant C/T snv 0.700 1.000 2 2007 2012
dbSNP: rs576930680
rs576930680
1 1.000 0.160 2 148469906 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2007 2012
dbSNP: rs769330358
rs769330358
1 1.000 0.160 2 148483160 missense variant G/A snv 1.2E-05 2.8E-05 0.700 1.000 2 2007 2012
dbSNP: rs1060501151
rs1060501151
1 1.000 0.160 2 148512906 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1060501153
rs1060501153
1 1.000 0.160 2 148470239 frameshift variant AACT/- delins 0.700 0
dbSNP: rs1553517984
rs1553517984
1 1.000 0.160 2 148463901 frameshift variant A/- del 0.700 0
dbSNP: rs1553518511
rs1553518511
1 1.000 0.160 2 148468966 frameshift variant -/C delins 0.700 0
dbSNP: rs1553518752
rs1553518752
1 1.000 0.160 2 148470263 frameshift variant C/- delins 0.700 0
dbSNP: rs1553519853
rs1553519853
1 1.000 0.160 2 148483222 frameshift variant C/- delins 0.700 0
dbSNP: rs1559094754
rs1559094754
1 1.000 0.160 2 148483177 frameshift variant ATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT/- del 0.700 0
dbSNP: rs1559099927
rs1559099927
1 1.000 0.160 2 148490566 stop gained C/A snv 0.700 0
dbSNP: rs398122412
rs398122412
1 1.000 0.160 2 148462617 frameshift variant T/- delins 0.700 0
dbSNP: rs794727928
rs794727928
1 1.000 0.160 2 148463859 frameshift variant AAAAGCAT/- delins 0.700 0
dbSNP: rs796052719
rs796052719
1 1.000 0.160 2 148468830 frameshift variant TA/- delins 0.700 0
dbSNP: rs886041003
rs886041003
1 1.000 0.160 2 148468383 stop gained C/G snv 0.700 0