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 0.100 0.960 25 2000 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.905 21 1996 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2000 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.050 0.800 5 1996 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2014 2018
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 2015 2019
dbSNP: rs841853
rs841853
SLC2A1
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.020 1.000 2 2012 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs143101792
rs143101792
CRP
5 0.851 0.320 1 159714026 stop gained G/C snv 8.8E-05 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs16835198
rs16835198 		3 0.882 0.200 1 32861080 downstream gene variant G/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs17300593
rs17300593 		2 0.925 0.160 1 58637536 intergenic variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2228146
rs2228146
IL6R
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs2229569
rs2229569
SELL ; C1orf112
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2780902
rs2780902
JAK1
1 1.000 0.120 1 64863417 intron variant C/T snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs2796498
rs2796498
PRKAA2
2 0.925 0.160 1 56678313 intron variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs3765156
rs3765156
PIK3C2B
1 1.000 0.120 1 204455900 synonymous variant G/A snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs3820589
rs3820589
SLC2A1 ; SLC2A1-AS1
2 0.925 0.200 1 42960373 intron variant A/T snv 8.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs6704078
rs6704078 		2 0.925 0.200 1 216437370 intergenic variant C/T snv 0.94 0.010 1.000 1 2019 2019
dbSNP: rs710218
rs710218
SLC2A1-AS1
5 0.882 0.280 1 42961547 intron variant T/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs7588550
rs7588550
ERBB4
4 0.851 0.160 2 212304043 intron variant G/A snv 0.96 0.020 1.000 2 2012 2013
dbSNP: rs11886047
rs11886047 		1 1.000 0.120 2 43623451 upstream gene variant T/A;C snv 0.20 0.010 1.000 1 2008 2008