Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 18
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 4
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 40
rs9926344
WWOX
1.000 0.080 16 78986883 intron variant G/A;C;T snv 2
rs553717
GPC5
13 91693325 missense variant C/T snv 0.14 0.14 1
rs894151
C8orf37-AS1
1.000 0.080 8 95226180 intron variant T/C snv 0.39 2