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: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs229527
rs229527
C1QTNF6
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.800 1.000 4 2010 2016
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs3806156
rs3806156
BTNL2 ; TSBP1-AS1
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs6902119
rs6902119
FGFR1OP
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1043101
rs1043101
SLC1A2
1 1.000 0.040 11 35253282 3 prime UTR variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020
dbSNP: rs13091753
rs13091753
LPP
2 1.000 0.040 3 188396801 intron variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13118
rs13118
NEU1
1 1.000 0.040 6 31859509 3 prime UTR variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1417210
rs1417210
SLC29A3
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.810 1.000 1 2013 2013
dbSNP: rs145954018
rs145954018
HLA-DRB9
1 1.000 0.040 6 32472545 intron variant GT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs148136154
rs148136154 		1 1.000 0.040 3 119564621 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1548514
rs1548514 		1 1.000 0.040 6 30419691 downstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2014 2014