Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs397507481
BRAF
0.882 0.240 7 140754206 missense variant G/C;T snv 4
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 5
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6