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: rs11209026
rs11209026
IL23R
5 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 3 2006 2020
dbSNP: rs12103
rs12103
INTS11 ; PUSL1 ; MIR6727
3 0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56 0.800 1.000 3 2012 2017
dbSNP: rs1801274
rs1801274
FCGR2A
8 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.800 1.000 3 2012 2017
dbSNP: rs4845604
rs4845604
RORC
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.800 1.000 3 2012 2017
dbSNP: rs12568930
rs12568930 		4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 2 2012 2017
dbSNP: rs2488397
rs2488397
DENND1B
2 1.000 0.040 1 197732149 intron variant G/C snv 0.23 0.700 1.000 2 2015 2017
dbSNP: rs2816958
rs2816958
NR5A2
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.700 1.000 2 2015 2017
dbSNP: rs3024505
rs3024505 		7 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.810 1.000 2 2012 2017
dbSNP: rs4656958
rs4656958
ITLN1
3 0.925 0.040 1 160887174 upstream gene variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs6426833
rs6426833 		6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.700 1.000 2 2015 2017
dbSNP: rs7517810
rs7517810 		2 1.000 0.040 1 172884320 intron variant C/T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs7554511
rs7554511
INAVA
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.810 1.000 2 2012 2017
dbSNP: rs10797432
rs10797432
LOC100996583
2 1.000 0.040 1 2569899 downstream gene variant C/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs10798069
rs10798069
PLA2G4A
2 1.000 0.040 1 186906327 intron variant G/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10800309
rs10800309 		3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11581607
rs11581607
IL23R
4 0.925 0.040 1 67242007 intron variant G/A snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs12035735
rs12035735
LRRC8D
4 1 89839786 intron variant G/A snv 1.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs2297559
rs2297559
ITLN1
1 1 160884736 intron variant G/A snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs2488389
rs2488389
DENND1B
3 0.925 0.040 1 197662011 intron variant G/A snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs2501846
rs2501846 		2 1.000 0.040 1 212668592 upstream gene variant T/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs2651244
rs2651244 		2 1.000 0.040 1 70529879 upstream gene variant G/A snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs3024493
rs3024493
IL10 ; IL19
8 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs3180018
rs3180018
SCAMP3
2 1.000 0.040 1 155260340 synonymous variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs34856868
rs34856868
BTBD8
1 1 92088726 missense variant G/A snv 2.0E-02 2.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs34920465
rs34920465 		8 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.700 1.000 1 2015 2015