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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs34972832
rs34972832
CLEC16A
2 0.925 0.120 16 11105081 intron variant G/A;T snv 0.14 0.700 1.000 1 2017 2017
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: rs7111520
rs7111520
POU2AF1
1 1.000 0.120 11 111378886 intron variant G/A snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
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: 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 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
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: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
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: 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: 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: rs4525246
rs4525246
GRAMD1B
4 0.851 0.160 11 123524538 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs9482849
rs9482849 		1 1.000 0.120 6 127967391 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs752427
rs752427
PVT1
1 1.000 0.120 8 127967762 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs4733809
rs4733809
PVT1
1 1.000 0.120 8 127977046 intron variant C/T snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs2608053
rs2608053
PVT1
1 1.000 0.120 8 128063586 intron variant T/C snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs2720680
rs2720680
PVT1
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs2019960
rs2019960
PVT1
2 0.925 0.160 8 128180025 intron variant T/C snv 0.27 0.800 1.000 3 2010 2014
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2017 2019