Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 28
rs8067378 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 12
rs4282438
COL11A2P1
0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 6
rs13117307
EXOC1
0.827 0.080 4 55885574 intron variant C/T snv 0.21 6
rs535915558
PMEL
0.827 0.120 12 55958494 missense variant C/T snv 2.0E-05 6
rs2977530
CCN4
0.851 0.160 8 133202869 intron variant G/A snv 0.35 5
rs2977537
CCN4
0.851 0.160 8 133207820 intron variant G/A;C snv 4