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: rs1052237
rs1052237
NUS1
1 6 117694118 stop gained T/C;G snv 8.8E-05 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs150240657
rs150240657
AGBL2
3 0.925 0.120 11 47682026 missense variant G/A snv 8.7E-05 3.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs1131017
rs1131017
RPS26 ; LOC105369780
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs945635
rs945635
FCRL3
4 0.882 0.200 1 157700500 5 prime UTR variant C/A;G snv 5.6E-05; 0.45 0.010 1.000 1 2013 2013
dbSNP: rs3827440
rs3827440
GPR174 ; LOC107985690
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
dbSNP: rs121434256
rs121434256
AIRE
3 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.010 1.000 1 1998 1998
dbSNP: rs1425186769
rs1425186769
P2RX2
2 1.000 0.120 12 132620303 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs766061667
rs766061667
PIK3R2
1 19 18168775 missense variant C/T snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1475539937
rs1475539937
TLR9
5 0.882 0.120 3 52223085 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs761234173
rs761234173
CDH13
2 1.000 0.040 16 83783345 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4077515
rs4077515
CARD9
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1252641479
rs1252641479
ARHGEF7
2 1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs1331108652
rs1331108652
PIK3CB
1 3 138694820 stop gained G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs760361706
rs760361706
PPARA
4 22 46235326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs201909740
rs201909740
CD28
2 1.000 0.040 2 203734889 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs752455542
rs752455542
CBLB
2 1.000 0.120 3 105681740 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.090 1.000 9 2009 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1223438908
rs1223438908
CBLB
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs774263008
rs774263008
FCRL3
1 1 157697767 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2014