Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs200100285
MTHFR
0.851 0.080 1 11796313 missense variant T/C;G snv 1.9E-04 1
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 1
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
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
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs34424986
PRKN
0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 5
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 2
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