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 0.020 1.000 2 2003 2011
dbSNP: rs12752888
rs12752888
LINC02784
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs63750048
rs63750048
PSEN2
2 0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2010 2010
dbSNP: rs774321998
rs774321998
MTHFR ; C1orf167
1 1.000 0.040 1 11790683 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
DNMT3A
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs12053868
rs12053868
IL1RAP
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2018 2018
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs3796529
rs3796529
REST
3 0.925 0.080 4 56931248 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2017 2017
dbSNP: rs6850306
rs6850306
LCORL
2 0.925 0.080 4 18004466 intron variant G/A snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.020 0.500 2 2019 2019
dbSNP: rs111943087
rs111943087
CSF1R
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs15009
rs15009
PLK2
2 0.925 0.080 5 58454523 3 prime UTR variant C/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs3756577
rs3756577
CAMK2A
2 0.925 0.080 5 150249081 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3822606
rs3822606
CAMK2A
2 0.925 0.080 5 150261592 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs640476
rs640476 		1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs702723
rs702723
PLK2
2 0.925 0.080 5 58457629 non coding transcript exon variant C/T snv 0.67 0.66 0.010 1.000 1 2016 2016
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2016 2019
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
dbSNP: rs1130399
rs1130399
HLA-DQB1
1 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1187120
rs1187120 		3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015