Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519844
APC
5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 1
rs1057519845
APC
5 112839990 frameshift variant GGACC/- del 1
rs1057519846
APC
5 112840263 frameshift variant ATTGATTC/- del 1
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1
rs876659517
APC
5 112835080 stop gained C/T snv 1
rs878853419
APC
1.000 0.120 5 112835073 stop gained CC/AT mnv 1
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 1
rs137852581
AR
0.882 0.080 X 67723701 missense variant C/T snv 1
rs864622007
AR
0.882 0.200 X 67711621 missense variant T/A snv 1
rs1565400045
ATM
11 108259050 frameshift variant A/- del 1
rs1565486028
ATM
11 108307917 frameshift variant -/G delins 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs1064795638
BAP1
0.851 0.080 3 52403251 stop gained G/A snv 1
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 5
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv 3
rs121913353
BRAF
0.925 0.160 7 140781612 missense variant C/G;T snv 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2