Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs78696119 0.925 0.080 15 88461409 non coding transcript exon variant A/G snv 7.0E-06 2
rs7853346 0.851 0.200 9 33676096 non coding transcript exon variant C/G snv 0.28; 1.2E-05 0.32 6
rs7853122 0.925 0.080 9 131705224 intron variant C/T snv 0.87 3
rs7849280
ABO
1.000 0.080 9 133251249 non coding transcript exon variant A/G snv 1
rs7818 0.925 0.080 6 149810956 3 prime UTR variant A/G;T snv 2
rs7813 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 22
rs7804372 0.716 0.320 7 116554174 intron variant T/A snv 0.27 19
rs779315943 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
rs7789045 0.925 0.080 7 30454406 intron variant T/A snv 0.59 2
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 23
rs7768897 0.925 0.080 6 110891080 non coding transcript exon variant A/G;T snv 2
rs7758229 0.732 0.120 6 160419220 intron variant G/A;T snv 16
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs77447679 0.925 0.080 17 79836675 intron variant C/A snv 5.4E-02 2
rs773919809 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 13
rs77382849 0.851 0.160 10 119050586 missense variant C/T snv 8.8E-03 4.4E-03 4
rs7712641 1.000 0.080 5 89607147 intron variant T/A;C snv 1
rs770849761
PHB
0.925 0.080 17 49405053 missense variant C/T snv 9.6E-06 7.0E-06 2
rs7708392 0.732 0.400 5 151077924 intron variant G/C snv 0.44 13
rs768231616 0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 3
rs766958673
CBS
0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 4
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs7624041 1.000 0.080 3 94389819 intergenic variant G/A snv 0.89 1
rs760077 0.925 0.120 1 155208991 missense variant T/A snv 0.36 8