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: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1364498756
rs1364498756
IRF9
1 14 24166173 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs139226823
rs139226823
CXCR3
1 X 71616597 missense variant C/G;T snv 5.5E-06; 5.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs1480480967
rs1480480967
IFNA13
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs17886084
rs17886084
MMP1 ; WTAPP1
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs179363879
rs179363879
AIRE
3 0.925 0.160 21 44286092 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1818879
rs1818879 		7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs35068180
rs35068180
MMP3
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs3789679
rs3789679
AGT
4 0.925 0.120 1 230713948 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4273729
rs4273729 		5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 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 2011 2011
dbSNP: rs781522558
rs781522558
STAT2
2 1.000 12 56346844 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs755850200
rs755850200
VDR
2 1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2013 2019
dbSNP: rs1336795098
rs1336795098
NUP214
1 9 131127544 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397516808
rs397516808
PTPN11
1 12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011