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: 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: rs1188539174
rs1188539174
LRRK2
1 12 40232341 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
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: 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 2011 2011
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 1999 1999
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs398122414
rs398122414
PRNP
3 0.925 0.120 20 4699898 stop gained C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs74315410
rs74315410
PRNP
2 1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs747500244
rs747500244
PRNP
1 20 4699797 missense variant A/G snv 1.2E-05 0.010 1.000 1 2014 2014
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: rs766487967
rs766487967
MPG ; NPRL3
2 1.000 0.120 16 85517 missense variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs768562045
rs768562045
PRNP
1 20 4699821 missense variant A/T snv 4.0E-06 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: rs776593792
rs776593792
PRNP
2 1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs372805579
rs372805579
CARD14
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 1999 2013
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: rs761807915
rs761807915
PRNP
4 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2011
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2000 2015
dbSNP: rs267606980
rs267606980
PRNP
2 1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06 0.030 1.000 3 2017 2020
dbSNP: rs1016726
rs1016726
CHN2
1 7 29316787 intron variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs10509125
rs10509125
ANK3
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs10994443
rs10994443
ANK3
2 1.000 0.040 10 60635760 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2012 2012