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 0.100 1.000 15 1996 2017
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.030 1.000 3 1995 2005
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.030 1.000 3 2009 2013
dbSNP: rs1456103222
rs1456103222
MAPT
1 1.000 0.120 17 45983399 missense variant G/A snv 4.2E-06 1.4E-05 0.020 1.000 2 2016 2016
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.020 1.000 2 2008 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 2015 2015
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: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs372805579
rs372805579
CARD14
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs372878791
rs372878791
PRNP
2 1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs74315407
rs74315407
PRNP
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs74315412
rs74315412
PRNP
5 0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05 0.010 1.000 1 2006 2006
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 2010 2010