Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs397509400 0.925 16 13935414 splice donor variant CTCAA/- delins 2
rs1085307885
NF1
0.925 0.120 17 31338808 splice region variant A/G snv 2
rs1372169495 1.000 6 106086585 missense variant G/A;C snv 6.3E-06; 6.3E-06 1
rs776155094 1.000 11 32435210 frameshift variant C/- del 7.6E-06 2.8E-05 1