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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs12039904
rs12039904
TNFSF4 ; LOC100506023
1 1.000 0.040 1 173243134 intergenic variant C/T snv 0.19 0.020 1.000 2 2011 2012
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs1857066
rs1857066
TNFSF4 ; LOC100506023
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs3790566
rs3790566
IL12RB2
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs844648
rs844648
TNFSF4 ; LOC100506023
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012
dbSNP: rs10912580
rs10912580
TNFSF4 ; LOC100506023
3 0.882 0.080 1 173287411 intergenic variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs11102522
rs11102522
RHOC
1 1.000 0.040 1 112708266 intron variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs11538960
rs11538960
RHOC ; MOV10
1 1.000 0.040 1 112701565 missense variant C/T snv 4.2E-04 5.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1217393
rs1217393
AP4B1-AS1
4 0.851 0.160 1 113891324 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs2201584
rs2201584
IL12RB2
1 1.000 0.040 1 67322032 intron variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs2275247
rs2275247
KIAA0319L
2 0.925 0.080 1 35442850 intron variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2422345
rs2422345
TNFSF4 ; LOC100506023
4 0.851 0.160 1 173368608 upstream gene variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012