NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Short stature ×
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: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519370
rs1057519370 		0.882 0.120 17 31159091 splice donor variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555535032
rs1555535032 		0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0