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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2008 2016
dbSNP: rs10988542
rs10988542
FNBP1
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
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 2001 2001
dbSNP: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2738774
rs2738774 		14 0.724 0.240 20 63637985 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264 		14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs55705316
rs55705316 		14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs62324212
rs62324212
IL21-AS1
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7660520
rs7660520 		14 0.724 0.240 4 182824168 upstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs7679475
rs7679475
LOC107986309
2 0.925 0.120 4 121392885 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7831697
rs7831697 		14 0.724 0.240 8 137124061 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
LRRK2 ; LOC105369736
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2014 2014