NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Thoracic scoliosis ×
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: rs760703505
rs760703505 		0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		Musculoskeletal Diseases 0.700 0