Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs193920774
TP53
0.695 0.440 17 7673823 missense variant C/A;T snv 21
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14