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: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.900 0.979 47 1989 2019
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.880 1.000 19 1989 2019
dbSNP: rs74315410
rs74315410
PRNP
2 1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06 0.830 1.000 13 1989 2019
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.820 1.000 13 1989 2018
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.810 1.000 12 1989 2010
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.780 1.000 8 1997 2019
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.760 1.000 6 1999 2018
dbSNP: rs761807915
rs761807915
PRNP
4 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 0.720 1.000 13 1989 2013
dbSNP: rs17852079
rs17852079
PRNP
1 1.000 0.120 20 4699899 stop gained C/A;T snv 0.710 1.000 1 2010 2010
dbSNP: rs751882709
rs751882709
PRNP
3 0.925 0.160 20 4699855 missense variant A/C snv 1.6E-05 2.8E-05 0.700 1.000 11 1989 2010
dbSNP: rs193922906
rs193922906
PRNP
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs398122413
rs398122413
PRNP
1 1.000 0.120 20 4699853 missense variant G/C snv 0.700 0
dbSNP: rs74315414
rs74315414
PRNP
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs74315415
rs74315415
PRNP
1 1.000 0.120 20 4699618 missense variant C/T snv 0.700 0
dbSNP: rs1055679036
rs1055679036
PRDX2 ; RNASEH2A ; HOOK2
1 1.000 0.120 19 12800207 missense variant A/G snv 0.020 1.000 2 2018 2019
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2010 2019
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 1997 2015
dbSNP: rs775163137
rs775163137
ABCB6
1 1.000 0.120 2 219218324 missense variant G/A snv 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs111512673
rs111512673
CASP3
1 1.000 0.120 4 184632303 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs12882491
rs12882491
TRAF3
3 0.925 0.160 14 102816936 intron variant C/T snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1801175
rs1801175
G6PC
8 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.010 1.000 1 1995 1995
dbSNP: rs2081687
rs2081687 		6 0.882 0.240 8 58476006 intergenic variant T/C snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2740375
rs2740375
CDHR5
2 0.925 0.160 11 618998 missense variant G/A;C;T snv 0.54; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 1999 1999