PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Fatal Familial Insomnia ×
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: rs74315403
rs74315403 		0.790 0.200 20 4699752 missense variant G/A snv
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.800 0.972 36 1992 2019
dbSNP: rs28933385
rs28933385 		0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.740 1.000 4 2001 2017
dbSNP: rs1799990
rs1799990 		0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.020 1.000 2 1993 2003
dbSNP: rs1800014
rs1800014 		0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs6116475
rs6116475 		1.000 0.080 20 4696723 intron variant A/G snv 0.21
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.010 1.000 1 2001 2001