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: 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: 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: 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 2010 2010
dbSNP: rs181348299
rs181348299
PRNP
1 1.000 0.120 20 4699663 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs2245220
rs2245220
PRND
3 0.882 0.160 20 4725072 missense variant C/G;T snv 4.1E-06; 0.46 0.52 0.010 < 0.001 1 2004 2004
dbSNP: rs295301
rs295301 		5 0.851 0.160 3 141619799 downstream gene variant G/A snv 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs35453518
rs35453518
PRND
1 1.000 0.120 20 4724718 missense variant C/A;T snv 8.0E-06; 8.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs368821179
rs368821179
CARD14
3 0.925 0.160 17 80182758 missense variant T/C snv 8.0E-06 2.1E-05 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs41279424
rs41279424
PRND
1 1.000 0.120 20 4724628 missense variant C/A;T snv 2.4E-05; 2.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs63751249
rs63751249
MAPT
1 1.000 0.120 17 45996620 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs638405
rs638405
BACE1 ; BACE1-AS
4 0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs748929962
rs748929962
PRNP
1 1.000 0.120 20 4699894 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs753438778
rs753438778
CSF2
2 0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2013 2013