Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48 22
rs10204525
PDCD1
0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 20
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs11209032 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 10
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 8
rs36084323
PDCD1
0.807 0.280 2 241859444 upstream gene variant C/T snv 5.4E-02 8
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv 5
rs587782545
NBN
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 4
rs730881864
NBN
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 4
rs767215758
NBN
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 4
rs113993992
SBDS
0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 3
rs121918661
TERT
0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 3
rs121918662
TERT
0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06 3
rs199422295
TERT
0.882 0.120 5 1279376 missense variant C/T snv 3
rs34094720
TERT
0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 3