Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
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
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 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
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15