Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519780
MTOR
1.000 0.120 1 11127800 missense variant C/T snv 1
rs587777900
MTOR
1.000 0.120 1 11114363 missense variant C/T snv 1
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 5
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv 6
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv 6
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv 5
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv 4
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 7
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13