Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80359014
BRCA2
0.763 0.320 13 32362596 missense variant A/G;T snv 10
rs80359031
BRCA2
0.763 0.320 13 32363190 missense variant A/T snv 10
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins 10
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv 9
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 4
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3
rs1057517558
APC
0.882 0.120 5 112839549 frameshift variant C/- delins 2
rs1060501105
SUFU
0.925 0.160 10 102615266 splice acceptor variant A/T snv 2
rs1060501108
SUFU
0.925 0.160 10 102549993 frameshift variant G/- del 2
rs1060501109
SUFU
0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 frameshift variant -/C delins 2
rs1554841447
SUFU
0.925 0.160 10 102509168 splice acceptor variant G/A snv 2
rs1554852279
SUFU
0.925 0.160 10 102592711 frameshift variant -/TA delins 2
rs1564032829
LOC100507346 ; PTCH1
0.925 0.160 9 95468757 frameshift variant T/- delins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 2
rs1564676479
SUFU
0.925 0.160 10 102550107 splice donor variant G/A snv 2