Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv 10
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv 5
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv 8
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv 7
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs104894231
LRRC56 ; HRAS
0.776 0.360 11 533467 missense variant C/G;T snv 7