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: rs1057518360
rs1057518360
NF1
1 1.000 0.120 17 31181420 splice acceptor variant A/G;T snv 0.700 0