Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11515 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 6
rs11016879 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 4
rs1052823 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 3
rs1052912 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 3
rs1211098985 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 3
rs1380228918 1.000 0.040 19 45364065 synonymous variant C/T snv 3
rs139994842 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 3
rs710100 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 3
rs876659477 0.882 0.040 17 7673730 missense variant T/C snv 3
rs1057519830 1.000 0.040 7 55163737 missense variant C/T snv 2
rs180127 0.925 0.040 17 69923642 intergenic variant G/A;C snv 2
rs2012775 1.000 0.040 9 115141569 intron variant T/C snv 0.30 2
rs10033029 1.000 0.040 4 86764643 missense variant T/C;G snv 9.4E-06; 8.0E-02 1
rs1034220998 1.000 0.040 1 6339497 synonymous variant G/A snv 1
rs1049430 1.000 0.040 9 17796670 3 prime UTR variant T/G snv 0.62 1
rs11573014 1.000 0.040 4 57111075 non coding transcript exon variant C/G snv 0.12 1
rs121909237 1.000 0.040 10 87933121 missense variant C/G snv 1
rs12452890 1.000 0.040 17 78134989 synonymous variant G/A snv 0.54 0.58 1
rs1256743514 1.000 0.040 7 55191728 missense variant T/C snv 7.0E-06 1
rs1257821596
AVP
1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06 1
rs1308193541
CBS
1.000 0.040 21 43066312 missense variant C/T snv 4.0E-06 1
rs148573932 1.000 0.040 12 57232791 missense variant A/G snv 2.8E-05 7.0E-05 1
rs17084687
KIT
1.000 0.040 4 54716231 intron variant C/T snv 0.11 1
rs2238151 1.000 0.040 12 111774029 intron variant T/C snv 0.52 1
rs229811 1.000 0.040 14 83448259 intergenic variant G/C snv 4.4E-02 1