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: rs397514702
rs397514702
WNT1 ; WNT10B
2 1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06 0.740 1.000 6 2013 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.050 1.000 5 2000 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.040 1.000 4 2014 2018
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.040 1.000 4 2010 2019
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2009 2015
dbSNP: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2015 2019
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.020 1.000 2 2013 2019
dbSNP: rs1230399
rs1230399
DUSP3
1 1.000 0.080 17 43768035 3 prime UTR variant C/T snv 0.66 0.020 1.000 2 2009 2018
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs1801197
rs1801197
CALCR
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2013 2018
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.020 1.000 2 2015 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2019
dbSNP: rs2278729
rs2278729
TBC1D8
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs2501431
rs2501431
CNR2
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3003336
rs3003336
CNR2
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.020 1.000 2 2014 2019
dbSNP: rs3134070
rs3134070
TNFRSF11B ; COLEC10
3 0.882 0.200 8 118952785 upstream gene variant C/T snv 9.6E-02 0.020 1.000 2 2015 2017
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs6426749
rs6426749 		3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs10085588
rs10085588
SEM1 ; LOC105375411 ; LOC105375412
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019