Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12594
RYR2
0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 2
rs16835904
RYR2
0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 2
rs751857027
QTRT1
0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 2
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs71305152
ZFPM2
0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 5
rs866419664
TP53
0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 5
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214