Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 3
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv 4
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 8
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 2
rs1057519905
H3C11
0.925 0.080 6 27872234 missense variant T/C snv 2
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv 10
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 1
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 9
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10