Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1057519753 0.763 0.120 1 64846664 missense variant C/A snv 9
rs111033563 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs1127354 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121909646 0.882 0.120 13 28018504 missense variant T/A;G snv 3
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs213210 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs35201683
HFE
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 12
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs780246573 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 12
rs797045145 0.807 0.240 6 26091479 stop gained G/A snv 6
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs762613037 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs80338880 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12