Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs229811 1.000 0.040 14 83448259 intergenic variant G/C snv 4.4E-02 1
rs1034220998 1.000 0.040 1 6339497 synonymous variant G/A snv 1
rs368731455 1.000 0.040 1 6281212 missense variant C/T snv 2.0E-05 1
rs758821654 1.000 0.040 1 6339437 synonymous variant G/A snv 4.0E-06 7.0E-06 1
rs765693356 1.000 0.040 1 6339527 synonymous variant G/A snv 1.2E-05 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
rs3213182 1.000 0.040 20 33675427 upstream gene variant A/C snv 7.2E-02 1
rs3213183 1.000 0.040 20 33675156 intron variant G/A;C snv 1
rs3218203 1.000 0.040 1 23511068 intron variant C/A;G snv 1
rs3218211 1.000 0.040 1 23509302 3 prime UTR variant A/G snv 0.48 1
rs6667575 1.000 0.040 1 23533029 upstream gene variant G/A snv 0.22 1
rs121913433 1.000 0.040 7 55174771 missense variant A/G snv 1
rs1256743514 1.000 0.040 7 55191728 missense variant T/C snv 7.0E-06 1
rs6970262 1.000 0.040 7 55192070 intron variant A/G snv 0.66 1
rs845561 1.000 0.040 7 55185015 intron variant C/T snv 0.76 1
rs4075349 1.000 0.040 4 57110791 non coding transcript exon variant C/T snv 0.49 1
rs11573014 1.000 0.040 4 57111075 non coding transcript exon variant C/G snv 0.12 1
rs121909250 1.000 0.040 13 110719736 missense variant G/C snv 1
rs121909251 1.000 0.040 13 110719739 missense variant A/G snv 1
rs121909252 1.000 0.040 13 110719667 missense variant C/A snv 1
rs17084687
KIT
1.000 0.040 4 54716231 intron variant C/T snv 0.11 1
rs6554198
KIT
1.000 0.040 4 54655993 upstream gene variant G/A;T snv 1
rs3218148 1.000 0.040 1 23525295 intron variant G/A;C;T snv 1
rs6581580 1.000 0.040 12 64609189 intron variant T/C;G snv 0.45 1