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 0.070 0.857 7 2006 2019
dbSNP: rs2300747
rs2300747
CD58 ; MIR548AC
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.820 1.000 6 2009 2018
dbSNP: rs1335532
rs1335532
CD58
1 1.000 0.080 1 116558335 intron variant A/G snv 0.28 0.810 1.000 5 2009 2018
dbSNP: rs10492972
rs10492972
KIF1B
1 1.000 0.080 1 10293054 intron variant T/C snv 0.32 0.830 1.000 4 2008 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.500 4 2007 2019
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.710 1.000 3 2010 2011
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2015
dbSNP: rs10735781
rs10735781
EVI5
1 1.000 0.080 1 92655550 intron variant G/C snv 0.57 0.710 1.000 2 2011 2017
dbSNP: rs11808092
rs11808092
EVI5
1 1.000 0.080 1 92607671 missense variant C/A snv 0.20 0.20 0.710 1.000 2 2010 2016
dbSNP: rs11810217
rs11810217
EVI5
1 1.000 0.080 1 92682820 intron variant C/T snv 0.20 0.810 1.000 2 2011 2017
dbSNP: rs12025416
rs12025416
LOC112268235
1 1.000 0.080 1 116495665 intron variant T/A;C snv 0.800 1.000 2 2009 2011
dbSNP: rs1323292
rs1323292
LOC105371664
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.800 1.000 2 2011 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2017 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 0.500 2 2017 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 0.500 2 2017 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2010 2019
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs6680578
rs6680578
EVI5
1 1.000 0.080 1 92711321 intron variant T/A snv 0.57 0.020 1.000 2 2010 2017
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.020 0.500 2 2008 2016
dbSNP: rs10797431
rs10797431
LOC100996583
5 0.851 0.080 1 2569783 non coding transcript exon variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10800309
rs10800309 		3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs113116201
rs113116201
MIR181A1HG
1 1.000 0.080 1 198861813 intron variant T/C snv 1.2E-02 0.700 1.000 1 2013 2013