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: rs1057518957
rs1057518957
4 1.000 0.040 2 232535143 missense variant G/T snv 0.700 0
dbSNP: rs1057518958
rs1057518958
4 1.000 0.040 2 232531353 frameshift variant T/- del 0.700 0
dbSNP: rs1060499549
rs1060499549
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs118192177
rs118192177
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913378
rs121913378
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913528
rs121913528
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 0
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs140614802
rs140614802
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1554442015
rs1554442015
5 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
dbSNP: rs1554642022
rs1554642022
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1554768245
rs1554768245
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1555247672
rs1555247672
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1569146993
rs1569146993
5 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs200473652
rs200473652
7 0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 0.700 0