Source: CURATED ×
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: rs10775412
rs10775412
KSR1
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs10960680
rs10960680 		1 1.000 0.040 9 12483941 intergenic variant A/C snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs12119179
rs12119179 		1 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs151823
rs151823
ERAP1
1 1.000 0.040 5 96824289 intron variant A/C snv 0.90 0.700 1.000 1 2010 2010
dbSNP: rs1551399
rs1551399
LOC105375746
5 0.827 0.120 8 125527723 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs17780256
rs17780256
SLC39A11 ; LOC105371887
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs4319543
rs4319543 		1 1.000 0.040 12 122160501 intergenic variant A/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs514475
rs514475 		1 1.000 0.040 6 137717768 intron variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs610037
rs610037
AP5B1
1 1.000 0.040 11 65779386 synonymous variant A/C snv 0.45 0.52 0.700 1.000 1 2015 2015
dbSNP: rs61802846
rs61802846
FCGR2A
5 0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs73129298
rs73129298
RNF114
1 1.000 0.040 20 49949528 intron variant A/C snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356
TYK2
7 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 3 2010 2018
dbSNP: rs1893592
rs1893592
UBASH3A
7 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs27432
rs27432
ERAP1 ; LOC102724748
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs280519
rs280519
TYK2
2 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs681323
rs681323 		1 1.000 0.040 6 137797444 upstream gene variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs714830
rs714830
CDKAL1
5 0.827 0.120 6 20624151 intron variant A/C;G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs7195296
rs7195296 		5 0.827 0.120 16 11655918 intergenic variant A/C;G snv 0.700 1.000 1 2016 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: rs4672505
rs4672505 		5 0.827 0.120 2 62333197 regulatory region variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9487605
rs9487605
MFSD4B
1 1.000 0.040 6 111261682 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1886734
rs1886734 		1 1.000 0.040 1 152618666 downstream gene variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs68080462
rs68080462 		1 1.000 0.040 3 18665014 intron variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs744487
rs744487 		1 1.000 0.040 1 234590266 upstream gene variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
8 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 4 2008 2015