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: rs1064794276
rs1064794276
NF1
2 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 34 1967 2017