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 0.900 1.000 44 1990 2019
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.900 1.000 27 1990 2019
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.955 22 1990 2015
dbSNP: rs74315407
rs74315407
PRNP
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.870 1.000 18 1990 2016
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.770 1.000 18 1990 2013
dbSNP: rs74315412
rs74315412
PRNP
5 0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05 0.750 1.000 16 1990 2014
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.900 1.000 14 1996 2015
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.830 1.000 13 1990 2010
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.070 1.000 7 1998 2015
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.050 1.000 5 1997 2019
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.040 1.000 4 1995 2013
dbSNP: rs769346296
rs769346296
PRNP
1 1.000 0.120 20 4699807 missense variant A/C snv 6.0E-05 2.8E-05 0.030 1.000 3 2014 2019
dbSNP: rs776593792
rs776593792
PRNP
2 1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05 0.730 1.000 3 2000 2014
dbSNP: rs752600356
rs752600356
APOE
4 0.851 0.280 19 44908681 missense variant G/A;C snv 2.3E-05 1.4E-05 0.020 1.000 2 2006 2006
dbSNP: rs868861597
rs868861597
CARD14
2 0.925 0.120 17 80192587 missense variant G/A snv 4.0E-06 7.0E-06 0.020 0.500 2 1996 1998
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1178466848
rs1178466848
PRNP
4 0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1191139947
rs1191139947
PRNP
3 0.882 0.120 20 4699935 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1290309353
rs1290309353
AZIN2
3 0.882 0.120 1 33096833 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1378923121
rs1378923121
MAPT
2 0.925 0.120 17 45983474 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1405757246
rs1405757246
GPI
3 0.882 0.120 19 34379521 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs140842009
rs140842009
GPI
3 0.882 0.120 19 34378959 missense variant C/A;T snv 4.0E-06; 5.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1460163
rs1460163 		1 1.000 0.120 8 79315213 downstream gene variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs1473972013
rs1473972013
CYP4X1
3 0.925 0.160 1 47035911 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16840647
rs16840647
RGS7
1 1.000 0.120 1 240799770 intron variant A/G snv 4.1E-02 0.700 1.000 1 2012 2012