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: rs2756271
rs2756271
PRNP ; RPS4XP2
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
4 0.882 0.120 9 27536399 non coding transcript exon variant C/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: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs3865444
rs3865444
CD33
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs393152
rs393152
LINC02210 ; LINC02210-CRHR1
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 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: rs610932
rs610932
MS4A6A
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs6116477
rs6116477 		1 20 4704015 downstream gene variant T/C 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: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 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: rs947211
rs947211
LOC105371702
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2012 2012
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: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2000 2015
dbSNP: rs267606980
rs267606980
PRNP
2 1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06 0.030 1.000 3 2017 2020
dbSNP: rs372805579
rs372805579
CARD14
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 1999 2013
dbSNP: rs372878791
rs372878791
PRNP
2 1.000 0.120 20 4699783 missense variant C/G;T snv 3.2E-05; 4.0E-05 0.020 1.000 2 2002 2010