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: 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: 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: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs80356489
rs80356489
SLC37A4
3 0.882 0.200 11 119028223 missense variant A/G snv 7.0E-06 0.010 1.000 1 1998 1998
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
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 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: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.810 1.000 12 1989 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: rs111512673
rs111512673
CASP3
1 1.000 0.120 4 184632303 missense variant A/G snv 0.010 1.000 1 2010 2010
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: rs398122414
rs398122414
PRNP
3 0.925 0.120 20 4699898 stop gained C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217
ABCG8
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010
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: rs3758650
rs3758650
IRF7 ; CDHR5
3 0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs7932167
rs7932167
CDHR5
2 0.925 0.160 11 620599 intron variant G/T snv 0.73 0.010 < 0.001 1 2011 2011
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: 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: 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 2013 2013
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2013 2013
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
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