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: rs6107516
rs6107516
PRNP
2 1.000 0.120 20 4696446 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
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: rs74315411
rs74315411
PRNP
4 0.882 0.160 20 4699767 missense variant A/G snv 0.710 1.000 1 2004 2004
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: 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: rs193922906
rs193922906
PRNP
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.700 0
dbSNP: rs74315412
rs74315412
PRNP
5 0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05 0.700 0
dbSNP: rs80356711
rs80356711
PRNP
4 1.000 20 4699698 stop gained C/T snv 0.700 0
dbSNP: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6052751
rs6052751
RPS4XP2
1 20 4664427 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1994090
rs1994090
SLC2A13
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736990
rs2736990
SNCA
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012