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: rs1064795229
rs1064795229
3 0.882 0.120 7 128844254 frameshift variant T/- del 0.700 0
dbSNP: rs1131692185
rs1131692185
3 0.882 0.040 7 128845012 missense variant GC/CT mnv 0.700 0
dbSNP: rs1402879259
rs1402879259
3 0.882 0.120 7 128848974 splice donor variant -/ACGTCACA delins 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1420159591
rs1420159591
3 0.882 0.120 7 128840055 stop gained C/T snv 0.700 0
dbSNP: rs1554397197
rs1554397197
3 0.882 0.120 7 128835417 stop gained G/A snv 0.700 0
dbSNP: rs1554398092
rs1554398092
3 0.882 0.120 7 128840127 frameshift variant GGGGAGC/- delins 0.700 0
dbSNP: rs1554398674
rs1554398674
3 0.882 0.120 7 128842782 splice acceptor variant TTCTCTGCAGGCGACGTGAGCATCGGC/- delins 0.700 0
dbSNP: rs1554400242
rs1554400242
3 0.882 0.120 7 128849540 frameshift variant G/- delins 0.700 0
dbSNP: rs1554400700
rs1554400700
3 0.882 0.120 7 128851482 frameshift variant -/A delins 0.700 0
dbSNP: rs1554401756
rs1554401756
3 0.882 0.120 7 128856560 stop gained C/T snv 0.700 0
dbSNP: rs1554401780
rs1554401780
3 0.882 0.120 7 128856637 frameshift variant T/- del 0.700 0
dbSNP: rs1554401830
rs1554401830
3 0.882 0.120 7 128856856 frameshift variant -/TGCT ins 0.700 0
dbSNP: rs1554401837
rs1554401837
3 0.882 0.120 7 128856895 frameshift variant TCCTGGGCTCGAG/- delins 0.700 0
dbSNP: rs1562988883
rs1562988883
3 0.882 0.120 7 128830784 frameshift variant C/TCT delins 0.700 0
dbSNP: rs1562991002
rs1562991002
1 1.000 7 128835341 missense variant T/C snv 0.700 0
dbSNP: rs1562998858
rs1562998858
3 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0
dbSNP: rs1562999443
rs1562999443
1 1.000 7 128848595 missense variant G/A snv 0.700 0
dbSNP: rs1562999451
rs1562999451
3 0.882 0.120 7 128848601 stop gained A/T snv 0.700 0
dbSNP: rs1563000044
rs1563000044
3 0.882 0.120 7 128849348 stop gained C/T snv 0.700 0
dbSNP: rs1563001456
rs1563001456
3 0.882 0.120 7 128851345 stop gained A/T snv 0.700 0
dbSNP: rs1563001548
rs1563001548
3 0.882 0.120 7 128851454 coding sequence variant G/- delins 0.700 0
dbSNP: rs1563003153
rs1563003153
3 0.882 0.120 7 128853799 frameshift variant C/- delins 0.700 0
dbSNP: rs1563003848
rs1563003848
1 1.000 7 128854628 missense variant C/A snv 0.700 0
dbSNP: rs199976790
rs199976790
3 0.882 0.120 7 128840603 stop gained C/A;T snv 6.0E-05 8.4E-05 0.700 0
dbSNP: rs200516164
rs200516164
1 1.000 7 128856555 missense variant C/T snv 1.0E-04 9.8E-05 0.700 0