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: 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
dbSNP: rs11767557
rs11767557
EPHA1-AS1
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs12734001
rs12734001
PPP1R12B
2 1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs12817488
rs12817488
CCDC62
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 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: 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
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: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs4538475
rs4538475
BST1
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs597668
rs597668
MARK4 ; BLOC1S3
3 0.925 0.080 19 45205630 intron variant T/A;C;G 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: 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: rs670139
rs670139
MS4A4A ; MS4A4E
3 0.925 0.080 11 60204322 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9349407
rs9349407
CD2AP
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs80356710
rs80356710
PRNP
3 0.925 0.040 20 4699655 stop gained T/G snv 0.730 1.000 3 2011 2019
dbSNP: rs398122414
rs398122414
PRNP
3 0.925 0.120 20 4699898 stop gained C/A snv 0.010 1.000 1 2018 2018
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: rs80356711
rs80356711
PRNP
4 1.000 20 4699698 stop gained C/T snv 0.700 0
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019