NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: rs863224493
rs863224493
0.925 0.120 17 31352281 stop gained G/A snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
Pathological Conditions, Signs and Symptoms 0.700 0