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: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2013 2013
dbSNP: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.030 1.000 3 2013 2020
dbSNP: rs1304037
rs1304037
IL1A
3 0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32 0.030 1.000 3 2013 2020
dbSNP: rs3783550
rs3783550
IL1A
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.010 1.000 1 2015 2015
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.030 1.000 3 2013 2015
dbSNP: rs3783525
rs3783525
IL1A
1 1.000 0.040 2 112784242 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs10167914
rs10167914 		1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs80111889
rs80111889 		2 1.000 0.040 2 112809853 intergenic variant T/G snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
dbSNP: rs62469231
rs62469231
FOXP2
1 1.000 0.040 7 114391119 intron variant G/A snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs77294520
rs77294520
GREB1
1 1.000 0.040 2 11520829 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12030576
rs12030576 		2 1.000 0.040 1 115274600 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11674184
rs11674184
GREB1
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs13394619
rs13394619
GREB1
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs4837864
rs4837864
ASTN2
1 1.000 0.040 9 116782154 intron variant T/C snv 0.84 0.010 1.000 1 2014 2014
dbSNP: rs855965
rs855965 		1 1.000 0.040 10 117684248 intergenic variant G/A snv 0.40 0.700 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 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1834306
rs1834306
MIR100HG ; MIR100 ; MIR10526
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2004 2010
dbSNP: rs427244
rs427244
RFLNA ; ZNF664-RFLNA
1 1.000 0.040 12 124120741 intron variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs16901004
rs16901004
LINC00861
1 1.000 0.040 8 125958758 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2020 2020
dbSNP: rs138913144
rs138913144
LAMC3
1 1.000 0.040 9 131022553 intron variant ATTTATTT/-;ATTT;ATTTATTTATTT;ATTTATTTATTTATTT;ATTTATTTATTTATTTATTT delins 0.700 1.000 1 2017 2017