Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv 3
rs863224846
ACVR1
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 3
rs1057519875
ACVR1
0.925 0.120 2 157770385 missense variant C/A snv 2
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs121913287
PIK3CA
0.752 0.400 3 179199088 missense variant G/A snv 11
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs139236063
EGFR
0.925 0.080 7 55165350 missense variant G/C;T snv 3
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 7
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
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 5