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 0.040 1.000 4 2010 2019
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.030 1.000 3 2006 2014
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.030 1.000 3 1998 2018
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.020 1.000 2 2009 2011
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.020 1.000 2 2010 2019
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 2003 2010
dbSNP: rs1029273
rs1029273
RPS4XP2
1 1.000 0.120 20 4675114 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 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 1.000 1 2006 2006
dbSNP: rs2986017
rs2986017
CALHM1
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.010 1.000 1 2013 2013
dbSNP: rs2986018
rs2986018
CALHM1
1 1.000 0.120 10 103458602 synonymous variant T/C snv 0.81 0.83 0.010 1.000 1 2013 2013
dbSNP: rs386747134
rs386747134
CALHM1
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.010 1.000 1 2013 2013
dbSNP: rs41287500
rs41287500
CALHM1
1 1.000 0.120 10 103455334 missense variant C/A;T snv 2.0E-05; 1.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs41287502
rs41287502
CALHM1
1 1.000 0.120 10 103455459 missense variant C/A snv 1.6E-02 1.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs4918016
rs4918016
CALHM1
1 1.000 0.120 10 103458497 synonymous variant C/A;T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998
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 2019 2019
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2018 2018
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 2005 2005
dbSNP: rs760832624
rs760832624
CALHM1
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.010 1.000 1 2013 2013
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: rs773268484
rs773268484
AQP1
4 0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019