Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519753 0.763 0.120 1 64846664 missense variant C/A snv 9
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
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
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs111033563 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs17213693 0.925 0.120 6 32813344 intron variant G/C snv 9.8E-02 2
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
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
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
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs11978267 0.763 0.240 7 50398606 intron variant A/G snv 0.25 9
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs80338880 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12
rs11545078
GGH
0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02 6
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2735383 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 18
rs927698341 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10