PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Familial (FPAH) ×
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: rs28933385
rs28933385 		0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2009 2020
dbSNP: rs74315401
rs74315401 		0.683 0.320 20 4699525 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs74315403
rs74315403 		0.790 0.200 20 4699752 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005