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: rs1057518881
rs1057518881
6 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308004
rs1085308004
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs113422242
rs113422242
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs113812345
rs113812345
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs137852814
rs137852814
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555395001
rs1555395001
8 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
dbSNP: rs1555398397
rs1555398397
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs1555398673
rs1555398673
7 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1566911709
rs1566911709
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs1566913974
rs1566913974
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs1567263168
rs1567263168
10 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs397507517
rs397507517
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
dbSNP: rs397515789
rs397515789
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
dbSNP: rs398123425
rs398123425
9 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
dbSNP: rs587784105
rs587784105
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs727503109
rs727503109
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0