Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12343867
INSL6 ; JAK2
0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs636832
AGO1
0.790 0.400 1 35897874 intron variant G/A snv 0.23 8
rs6503691
STAT5B
0.827 0.200 17 42242072 intron variant C/T snv 0.26 5
rs111340708
ATXN2 ; SH2B3
0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 2
rs1257378
LOC105369438 ; PIWIL4
1.000 0.080 11 94621792 intron variant A/T snv 1
rs6931104
ARMT1
1.000 0.080 6 151465042 intron variant G/A snv 0.54 1
rs4795519 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 1
rs137852975
HNRNPUL2-BSCL2 ; BSCL2
0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 5
rs1208076129
POU5F1 ; TCF19
0.925 0.120 6 31164861 stop gained G/A snv 4.1E-06 2.1E-05 2
rs137852974
LRRN4CL ; BSCL2 ; HNRNPUL2-BSCL2
0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06 2
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
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79