Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201131773 1.000 0.040 9 21805207 intron variant -/AC delins 1
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1231071385 1.000 0.040 2 175093177 frameshift variant -/G ins 1
rs1057519729 0.827 0.080 15 66435113 missense variant A/C snv 6
rs498136 0.851 0.080 11 69552350 intergenic variant A/C snv 0.68 4
rs1847134 0.925 0.080 11 89272085 intron variant A/C snv 0.26 3
rs397507482 0.882 0.040 7 140753386 missense variant A/C snv 3
rs144460286 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 2
rs1453167097 0.925 0.080 17 7675172 missense variant A/C snv 2
rs1057519735 1.000 0.040 15 66490577 missense variant A/C snv 1
rs1351383 1.000 0.040 6 32854492 intron variant A/C snv 0.43 1
rs374980122 1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05 1
rs4845622 1.000 0.040 1 154438943 intron variant A/C snv 0.32 1
rs2227981 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 12
rs11225395 0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs35407 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 6
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv 2
rs206118 0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 2
rs397516790 0.925 0.200 15 66435115 missense variant A/C;G snv 2
rs4785759 1.000 0.040 16 89984472 intron variant A/C;G snv 1
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26