Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 3
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 3
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 3
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 3
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 3
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 3
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv 3
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 3
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 3
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 3
rs80338958
SCN4A
0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 3
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 3
rs199473072
SCN5A
0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 3
rs41315493
SCN5A
0.851 0.120 3 38550521 missense variant C/A;T snv 6.6E-03; 9.7E-05 3
rs137854617
SCN5A
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 3
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv 3
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 3
rs34094720
TERT
0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 3
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 3
rs137853107
TMEM67
0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06 3
rs34993780
UGT1A10 ; MROH2A ; UGT1A7 ; UGT1A5 ; UGT1A6 ; UGT1A1 ; UGT1A9 ; UGT1A8 ; UGT1A3 ; UGT1A4
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04 3
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 3
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 3
rs61750639
ABCA4
0.882 0.080 1 94007710 missense variant C/T snv 8.0E-06 1.4E-05 2
rs61751399
ABCA4
0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05 2