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: rs1006994885
rs1006994885
5 1.000 0.160 16 16150577 splice donor variant C/A;G snv 0.700 0
dbSNP: rs114303883
rs114303883
8 1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05 0.700 0
dbSNP: rs1555507925
rs1555507925
4 1.000 0.160 16 16157768 stop gained C/T snv 0.700 0
dbSNP: rs1555513085
rs1555513085
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555514927
rs1555514927
4 1.000 0.160 16 16190280 frameshift variant C/- delins 0.700 0
dbSNP: rs28939701
rs28939701
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
dbSNP: rs28939702
rs28939702
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs63750473
rs63750473
4 1.000 0.160 16 16163101 missense variant C/G snv 0.700 0
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs72653759
rs72653759
7 0.925 0.200 16 16202086 missense variant G/A;C snv 3.2E-05; 2.0E-05 0.700 0
dbSNP: rs72653762
rs72653762
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 0.700 0
dbSNP: rs72653772
rs72653772
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs72653783
rs72653783
7 1.000 0.160 16 16182566 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs72653786
rs72653786
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs72664213
rs72664213
4 1.000 0.160 16 16155036 splice region variant C/T snv 0.700 0
dbSNP: rs72664237
rs72664237
7 1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05 0.700 0