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: rs7679475
rs7679475
LOC107986309
2 0.925 0.120 4 121392885 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.720 1.000 4 2006 2015
dbSNP: rs12598357
rs12598357 		15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-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: rs17759659
rs17759659
BCL2
4 0.851 0.120 18 63291411 intron variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs4625
rs4625
DAG1
17 0.716 0.280 3 49534707 3 prime UTR variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs72743477
rs72743477
SMAD3
14 0.724 0.240 15 67171953 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
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: 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: rs2807264
rs2807264 		14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 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: 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: rs1015166
rs1015166
TAP2
2 0.925 0.120 6 32830954 intron variant C/G;T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 < 0.001 1 2019 2019
dbSNP: rs12863738
rs12863738 		14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs17885785
rs17885785
IGF2 ; IGF2-AS ; INS-IGF2
14 0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs2270450
rs2270450
SLC25A27 ; LOC101926934
5 0.827 0.200 6 46677138 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs2523989
rs2523989
TRIM31 ; TRIM31-AS1
5 0.827 0.280 6 30110498 missense variant C/T snv 0.12 0.12 0.700 1.000 1 2015 2015