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: rs4946717
rs4946717
PRDM1
6 0.827 0.120 6 106026874 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3776414
rs3776414
DAP
6 0.827 0.120 5 10689450 intron variant T/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs2930047
rs2930047
DAP
3 0.925 0.040 5 10695414 intron variant T/C snv 0.49 0.800 1.000 1 2012 2012
dbSNP: rs878859113
rs878859113
CD24
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.020 1.000 2 2011 2014
dbSNP: rs4380874
rs4380874 		2 1.000 0.040 7 107839870 intergenic variant T/A;C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs11195128
rs11195128 		2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2015 2015
dbSNP: rs3851228
rs3851228
TRAF3IP2-AS1 ; LOC107986522
3 0.925 0.040 6 111526988 intron variant A/T snv 9.7E-02 0.800 1.000 2 2012 2017
dbSNP: rs2179070
rs2179070
TRAF3IP2 ; TRAF3IP2-AS1
1 6 111564549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2015 2017
dbSNP: rs2024092
rs2024092
SBNO2
6 0.827 0.120 19 1124032 intron variant G/A snv 0.24 0.26 0.700 1.000 2 2015 2017
dbSNP: rs529866
rs529866
RMI2 ; LOC105371082
2 1.000 0.040 16 11279463 intron variant C/T snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs423674
rs423674
RMI2 ; LOC105371082
3 0.925 0.120 16 11279548 intron variant G/T snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2001
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 1999 2001
dbSNP: rs4848306
rs4848306 		6 0.851 0.120 2 112840530 non coding transcript exon variant G/A snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs6689879
rs6689879
MAGI3
1 1 113559097 intron variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1343126
rs1343126
MAGI3
1 1 113586470 intron variant A/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
dbSNP: rs561722
rs561722
NXPE2
2 1.000 0.040 11 114516108 upstream gene variant C/T snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs7968307
rs7968307 		1 12 114620647 upstream gene variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10114470
rs10114470
TNFSF15
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2018 2018