Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 17
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv 10
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv 10
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 9
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7