Disease: Cardio-facio-cutaneous syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 17
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv 9
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv 5
rs180177038
BRAF
0.851 0.200 7 140778007 missense variant C/G;T snv 4
rs104894362
KRAS
0.882 0.200 12 25209894 missense variant G/C snv 3
rs180177034
BRAF
0.882 0.200 7 140801536 missense variant C/G snv 3
rs397507469
BRAF
0.882 0.200 7 140801503 missense variant G/T snv 3
rs397517147
SOS1
0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06 3
rs727503108
KRAS
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 3
rs1434040739
HRAS ; LOC101059906 ; LRRC56
0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06 2
rs180177036
BRAF
0.925 0.200 7 140778053 missense variant C/A;G snv 2
rs397516903
BRAF
0.925 0.200 7 140801533 missense variant A/C;G snv 2
rs397516904
BRAF
0.925 0.200 7 140801487 missense variant T/C;G snv 2
rs397517042
KRAS
0.925 0.200 12 25209896 missense variant A/C;T snv 2