Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894366 0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs104894359 0.851 0.200 12 25227346 missense variant C/G;T snv 4
rs104894365 0.827 0.320 12 25245345 missense variant C/T snv 3
rs727503108 0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 3
rs727503110 0.882 0.160 12 25245320 missense variant T/A;C snv 3
rs104894361 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 2
rs104894364 0.925 0.160 12 25227351 missense variant G/A snv 2
rs193929331 0.925 0.160 12 25245372 missense variant T/C snv 2
rs397517042 0.925 0.200 12 25209896 missense variant A/C;T snv 2
rs104894362 0.882 0.200 12 25209894 missense variant G/C snv 1
rs397517041 1.000 0.160 12 25209908 missense variant C/A snv 1
rs727504662 0.925 0.160 12 25227310 missense variant T/A snv 1
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs777243508 0.925 0.160 22 20993977 stop gained G/A snv 1.4E-04 1.8E-04 1
rs727504317 0.807 0.320 15 66435145 missense variant G/A snv 6
rs876657651 0.882 0.160 15 66436818 missense variant A/G snv 3
rs1057519819 0.851 0.240 15 66436750 missense variant T/C snv 1
rs727504370 0.925 0.200 19 4110558 missense variant T/C snv 2
rs727504382 0.925 0.200 19 4101105 missense variant C/T snv 2
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 12
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 3
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 12