Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.750 1.000 5 1999 2014
dbSNP: rs267606980
rs267606980
PRNP
2 1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06 0.030 1.000 3 2017 2020
dbSNP: rs80356710
rs80356710
PRNP
3 0.925 0.040 20 4699655 stop gained T/G snv 0.730 1.000 3 2011 2019
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.720 1.000 2 1993 1999
dbSNP: rs372878791
rs372878791
PRNP
2 1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05 0.020 1.000 2 2002 2010
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.720 0.500 2 1996 2016
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.720 1.000 2 2000 2010
dbSNP: rs74315414
rs74315414
PRNP
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.720 1.000 2 2008 2011
dbSNP: rs1188539174
rs1188539174
LRRK2
1 12 40232341 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1994090
rs1994090
SLC2A13
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736990
rs2736990
SNCA
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs398122414
rs398122414
PRNP
3 0.925 0.120 20 4699898 stop gained C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs597668
rs597668
MARK4 ; BLOC1S3
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs6052751
rs6052751
RPS4XP2
1 20 4664427 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs670139
rs670139
MS4A4A ; MS4A4E
3 0.925 0.080 11 60204322 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs74315410
rs74315410
PRNP
2 1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs74315411
rs74315411
PRNP
4 0.882 0.160 20 4699767 missense variant A/G snv 0.710 1.000 1 2004 2004
dbSNP: rs747500244
rs747500244
PRNP
1 20 4699797 missense variant A/G snv 1.2E-05 0.010 1.000 1 2014 2014