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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1432295
rs1432295
LINC01185
1 1.000 0.120 2 60839531 intron variant G/A snv 0.69 0.800 1.000 2 2010 2013
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs6546149
rs6546149
DTNB
4 0.851 0.160 2 25406569 intron variant C/G snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 2 2017 2017
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12488654
rs12488654
TNFSF10
2 0.925 0.160 3 172524100 upstream gene variant G/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs3806624
rs3806624
EOMES
2 0.925 0.200 3 27723132 upstream gene variant A/G snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007
dbSNP: rs6439924
rs6439924
CLSTN2 ; LOC105374132
1 1.000 0.120 3 140450815 intron variant A/C snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs6763508
rs6763508
ULK4
4 0.851 0.160 3 41709497 intron variant T/C snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs9880772
rs9880772 		5 0.827 0.240 3 27736288 intergenic variant G/A snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs387906223
rs387906223
KLHDC8B
1 1.000 0.120 3 49171662 5 prime UTR variant C/T snv 4.8E-03 0.700 0