NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Eruptive xanthoma ×
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: rs397514641
rs397514641 		0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma 		Nutritional and Metabolic Diseases 0.700 0