Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1435266782
IDH2
0.925 0.040 15 90088633 missense variant C/A;T snv 4.0E-06 2
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 18
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 58
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 15
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 1
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 7
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 12
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 9
rs1205454520
KLLN ; PTEN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 10
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs17296479 0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02 5
rs12885300
DIO2 ; DIO2-AS1
0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 7
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs35850753
TP53
0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 3
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 4
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 3
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 36
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 1
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 9
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 1
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 4