Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs750610248
BCL11B
0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 3
rs1057519054
DCC
1.000 0.120 18 53386061 missense variant T/G snv 2
rs1057519055
DCC
1.000 0.120 18 53386097 missense variant G/A snv 2
rs1057519056
DCC
1.000 0.120 18 53207746 missense variant G/A;C snv 2
rs1057519057
DCC
1.000 0.120 18 53391876 missense variant G/A snv 2
rs1569459580
PAK3
1.000 0.120 X 111196503 missense variant G/A snv 2
rs199651452
DCC
1.000 0.120 18 53339775 missense variant A/T snv 4.0E-06 2
rs775565634
DCC
1.000 0.120 18 53339808 missense variant G/A snv 1.5E-04 7.7E-05 2
rs782785654
TMLHE-AS1 ; TMLHE
1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05 2
rs1285675735
SORD
0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 6
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 6
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs1555682265
DCC
0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 5
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs1558519119
BCL11A
0.925 0.120 2 60546061 frameshift variant C/- del 3
rs1057519053
DCC
1.000 0.120 18 52925310 frameshift variant A/- del 2
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv 5
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12