NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Mid aortic syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1279529138
rs1279529138 		0.882 0.160 17 31260516 splice donor variant G/A;T snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs199474747
rs199474747 		0.925 0.120 17 31229155 missense variant T/C;G snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		0.700 1.000 1 2018 2018