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: 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: 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: 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: 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: 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
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: rs2065706
rs2065706 		1 1.000 0.120 20 4702649 downstream gene variant T/C snv 0.17 0.700 1.000 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: rs3863150
rs3863150
PLCXD3
1 1.000 0.120 5 41506758 intron variant T/C snv 0.11 0.700 1.000 1 2012 2012
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: rs4921542
rs4921542
MTMR7 ; LOC102724838
1 1.000 0.120 8 17348068 intron variant T/G snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs6052780
rs6052780 		1 1.000 0.120 20 4708828 intergenic variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516
PRNP
2 1.000 0.120 20 4696446 intron variant G/A snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs6116492
rs6116492 		1 1.000 0.120 20 4717980 upstream gene variant G/T snv 7.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs63751249
rs63751249
MAPT
1 1.000 0.120 17 45996620 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs676328
rs676328
PLCXD3
1 1.000 0.120 5 41505587 intron variant T/A;C snv 0.700 1.000 1 2012 2012
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