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: rs74315401
rs74315401
0.683 0.320 20 4699525 missense variant C/T snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.900 0.979 47 1989 2019
dbSNP: rs74315405
rs74315405
0.827 0.160 20 4699813 missense variant T/C snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.880 1.000 19 1989 2019
dbSNP: rs74315410
rs74315410
1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.830 1.000 13 1989 2019
dbSNP: rs74315413
rs74315413
0.807 0.160 20 4699780 missense variant A/G snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.820 1.000 13 1989 2018
dbSNP: rs74315406
rs74315406
0.851 0.160 20 4699870 missense variant A/G snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.810 1.000 12 1989 2010
dbSNP: rs74315402
rs74315402
0.882 0.200 20 4699570 missense variant C/T snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.780 1.000 8 1997 2019
dbSNP: rs11538758
rs11538758
0.882 0.160 20 4699534 missense variant C/A;T snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.760 1.000 6 1999 2018
dbSNP: rs761807915
rs761807915
0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.720 1.000 13 1989 2013
dbSNP: rs17852079
rs17852079
1.000 0.120 20 4699899 stop gained C/A;T snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.710 1.000 1 2010 2010
dbSNP: rs751882709
rs751882709
0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 1.000 11 1989 2010
dbSNP: rs193922906
rs193922906
0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins
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
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 0
dbSNP: rs74315414
rs74315414
0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 0
dbSNP: rs74315415
rs74315415
1.000 0.120 20 4699618 missense variant C/T snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.700 0
dbSNP: rs1800014
rs1800014
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.020 1.000 2 1997 2015
dbSNP: rs28933385
rs28933385
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs398122370
rs398122370
0.925 0.160 20 4699851 missense variant G/C snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs398122414
rs398122414
0.925 0.120 20 4699898 stop gained C/A snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs74315403
rs74315403
0.790 0.200 20 4699752 missense variant G/A snv
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs74315408
rs74315408
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315409
rs74315409
0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05
Gerstmann-Straussler-Scheinker Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2013 2013