Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1279529138
rs1279529138
NF1
3 0.882 0.160 17 31260516 splice donor variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs199474747
rs199474747
NF1
3 0.925 0.120 17 31229155 missense variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs863223648
rs863223648
JAG1
1 1.000 20 10663962 splice donor variant C/T snv 0.700 1.000 1 2018 2018