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: rs483352966
rs483352966
1 1.000 0.040 11 2885456 start lost T/G snv 0.700 1.000 2 1999 2015
dbSNP: rs483352968
rs483352968
1 1.000 0.040 11 2885332 missense variant A/G snv 0.700 1.000 2 1999 2015
dbSNP: rs483352970
rs483352970
1 1.000 0.040 11 2885281 missense variant G/A;T snv 7.0E-06 0.700 1.000 2 1999 2015
dbSNP: rs483352981
rs483352981
1 1.000 0.040 11 2885018 missense variant G/C snv 0.700 1.000 2 1999 2015
dbSNP: rs104894200
rs104894200
1 1.000 0.040 11 2884750 stop gained G/A;T snv 0.700 1.000 1 1997 1997
dbSNP: rs137852766
rs137852766
1 1.000 0.040 11 2885351 stop gained G/A snv 0.700 0
dbSNP: rs1554937726
rs1554937726
1 1.000 0.040 11 2884727 frameshift variant CGGTGCCGGCCG/GCAC delins 0.700 0
dbSNP: rs1554937847
rs1554937847
1 1.000 0.040 11 2884854 frameshift variant -/GCGGGGGCCGGGGCCGGGGCCGGGG delins 0.700 0
dbSNP: rs1554938087
rs1554938087
1 1.000 0.040 11 2885099 frameshift variant TCGAGGCC/- delins 0.700 0
dbSNP: rs1554938194
rs1554938194
1 1.000 0.040 11 2885294 frameshift variant G/- delins 0.700 0
dbSNP: rs1554938197
rs1554938197
1 1.000 0.040 11 2885300 frameshift variant -/CCAGCTGGAA ins 0.700 0
dbSNP: rs1564929426
rs1564929426
1 1.000 0.040 11 2884784 stop gained C/A snv 0.700 0
dbSNP: rs1564929520
rs1564929520
1 1.000 0.040 11 2884817 stop gained C/A snv 0.700 0
dbSNP: rs1564929584
rs1564929584
1 1.000 0.040 11 2884843 frameshift variant G/- delins 0.700 0
dbSNP: rs267606716
rs267606716
1 1.000 0.040 11 2884110 stop gained G/C;T snv 0.700 0
dbSNP: rs387906399
rs387906399
1 1.000 0.040 11 2885179 frameshift variant AG/C delins 0.700 0
dbSNP: rs587777866
rs587777866
1 1.000 0.040 11 2883997 splice donor variant A/G snv 0.700 0
dbSNP: rs786205234
rs786205234
1 1.000 0.040 11 2885041 frameshift variant G/- delins 0.700 0
dbSNP: rs786205235
rs786205235
1 1.000 0.040 11 2885156 frameshift variant -/G delins 8.1E-06 0.700 0
dbSNP: rs786205236
rs786205236
1 1.000 0.040 11 2885089 frameshift variant -/C delins 0.700 0
dbSNP: rs786205237
rs786205237
1 1.000 0.040 11 2884855 frameshift variant G/- delins 0.700 0
dbSNP: rs786205239
rs786205239
1 1.000 0.040 11 2884859 frameshift variant C/TT delins 0.700 0
dbSNP: rs786205240
rs786205240
1 1.000 0.040 11 2884846 frameshift variant GCCG/CCC delins 0.700 0
dbSNP: rs786205241
rs786205241
1 1.000 0.040 11 2884860 frameshift variant -/AGCGGGGCCGG delins 0.700 0
dbSNP: rs797045445
rs797045445
1 1.000 0.040 11 2884796 stop gained G/A snv 0.700 0