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: rs1057518799
rs1057518799
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518891
rs1057518891
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1085308047
rs1085308047
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0
dbSNP: rs1553769428
rs1553769428
HJV
4 0.925 0.120 1 146018352 stop gained C/A snv 0.700 0
dbSNP: rs1555570093
rs1555570093
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs1562203136
rs1562203136
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1567498374
rs1567498374
5 0.882 0.160 16 75630493 frameshift variant G/-;GG 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: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs587777630
rs587777630
16 0.716 0.440 2 190986921 missense variant G/A 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: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs794727931
rs794727931
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs876661024
rs876661024
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs121908862
rs121908862
2 0.925 0.120 14 81092563 missense variant T/A snv 0.010 1.000 1 1996 1996
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121908866
rs121908866
3 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003