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: rs6074028
rs6074028
CD40
1 1.000 0.040 20 46126219 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs73115010
rs73115010
CD40
1 1.000 0.040 20 46124597 intron variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs204989
rs204989
GPSM3
2 0.925 0.120 6 32194075 intron variant G/A snv 0.21 0.020 1.000 2 2016 2016
dbSNP: rs10911363
rs10911363
NCF2 ; SMG7
2 0.925 0.120 1 183580622 intron variant G/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs11168268
rs11168268
VDR
2 0.925 0.120 12 47858029 intron variant G/A snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1385889785
rs1385889785
FCRL3
2 1.000 0.040 1 157695436 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1477353313
rs1477353313
ACR
2 0.925 0.120 22 50744085 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1562444
rs1562444
MTNR1B
2 0.925 0.120 11 92982683 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs2165667
rs2165667
MTNR1A ; LOC105377596
2 0.925 0.040 4 186540475 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs540558
rs540558
OSMR ; OSMR-AS1
2 0.925 0.120 5 38844171 intron variant C/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs7033979
rs7033979
ASPN ; CENPP
2 0.925 0.040 9 92461698 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10491322
rs10491322
PPP2CA
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs17197936
rs17197936 		3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs204991
rs204991
GPSM3
3 0.882 0.200 6 32193589 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs3890733
rs3890733
VDR
3 0.882 0.120 12 47895590 intron variant C/T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs741761
rs741761
SEMA7A ; MIR6881
3 0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4760648
rs4760648
VDR
4 0.851 0.200 12 47886882 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs778767225
rs778767225
MOK
4 0.851 0.200 14 102231805 missense variant C/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs11747270
rs11747270
IRGM
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs3024498
rs3024498
IL10
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1057519090
rs1057519090
COL4A2
7 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
dbSNP: rs4958847
rs4958847
IRGM
8 0.807 0.120 5 150860025 intron variant G/A snv 0.25 0.010 1.000 1 2020 2020