Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8034191
HYKK
0.695 0.440 15 78513681 intron variant T/C snv 0.27 24
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs5352
EDNRB ; EDNRB-AS1
0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02 5
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 34
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10 8
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs1555525012
TP53
0.882 0.200 17 7673603 missense variant G/A snv 3
rs17884306
TP53
0.925 0.120 17 7668783 3 prime UTR variant C/T snv 5.1E-02 2
rs2941471
HNF4G
0.851 0.240 8 75558169 intron variant G/A snv 0.65 4
rs2229629
HK2
0.882 0.120 2 74889400 missense variant G/A snv 6.0E-02 0.18 4
rs747601652
CRYZ
0.925 0.120 1 74723233 missense variant A/G snv 1.2E-05 2
rs1447826 1.000 0.120 3 74669607 intergenic variant T/A;C;G snv 1
rs9543325 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 3
rs9573163 0.925 0.120 13 73334709 regulatory region variant C/G;T snv 2
rs9564966 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 4
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs1552462 0.925 0.120 11 7235910 upstream gene variant C/T snv 2.7E-02 2
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32