PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
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: rs74315409
rs74315409 		0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.730 1.000 3 2010 2013
dbSNP: rs776593792
rs776593792 		1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.730 1.000 3 2000 2014
dbSNP: rs80356710
rs80356710 		0.925 0.040 20 4699655 stop gained T/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.730 1.000 3 2011 2019
dbSNP: rs761807915
rs761807915 		0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.720 1.000 13 1989 2013
dbSNP: rs11538758
rs11538758 		0.882 0.160 20 4699534 missense variant C/A;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 1993 1999
dbSNP: rs74315405
rs74315405 		0.827 0.160 20 4699813 missense variant T/C snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 0.500 2 1996 2016
dbSNP: rs74315407
rs74315407 		0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2011 2015
dbSNP: rs74315413
rs74315413 		0.807 0.160 20 4699780 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2000 2010
dbSNP: rs74315414
rs74315414 		0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.720 1.000 2 2008 2011
dbSNP: rs17852079
rs17852079 		1.000 0.120 20 4699899 stop gained C/A;T snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.710 1.000 1 2010 2010
dbSNP: rs74315411
rs74315411 		0.882 0.160 20 4699767 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.710 1.000 1 2004 2004
dbSNP: rs28933385
rs28933385 		0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 22 1989 2016
dbSNP: rs74315402
rs74315402 		0.882 0.200 20 4699570 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 1993 2018
dbSNP: rs751882709
rs751882709 		0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 1.000 11 1989 2010
dbSNP: rs74315405
rs74315405 		0.827 0.160 20 4699813 missense variant T/C snv
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 8 1992 2015
dbSNP: rs2756271
rs2756271 		20 4684616 intron variant A/G;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516 		1.000 0.120 20 4696446 intron variant G/A snv 0.23
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555782101
rs1555782101 		1.000 20 4699709 stop gained C/G snv
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		0.700 0
dbSNP: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs193922906
rs193922906 		0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 0
dbSNP: rs398122413
rs398122413 		1.000 0.120 20 4699853 missense variant G/C snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 0
dbSNP: rs398122414
rs398122414 		0.925 0.120 20 4699898 stop gained C/A snv
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		0.700 0
dbSNP: rs74315406
rs74315406 		0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 0