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: rs751882709
rs751882709
PRNP
3 0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.860 1.000 7 2008 2015
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.720 1.000 2 2000 2010
dbSNP: rs1292160648
rs1292160648
PRNP
1 20 4699738 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16990018
rs16990018
PRNP
5 0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012
dbSNP: rs393152
rs393152
LINC02210 ; LINC02210-CRHR1
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 0.700 1.000 1 2012 2012
dbSNP: rs4538475
rs4538475
BST1
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs74315411
rs74315411
PRNP
4 0.882 0.160 20 4699767 missense variant A/G snv 0.710 1.000 1 2004 2004
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs747500244
rs747500244
PRNP
1 20 4699797 missense variant A/G snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs947211
rs947211
LOC105371702
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.700 0
dbSNP: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs768562045
rs768562045
PRNP
1 20 4699821 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10509125
rs10509125
ANK3
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs3865444
rs3865444
CD33
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs398122414
rs398122414
PRNP
3 0.925 0.120 20 4699898 stop gained C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs775144659
rs775144659
PRNP
1 20 4699816 missense variant C/A snv 0.010 1.000 1 2019 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: 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: 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: 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: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019