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: rs1956545
rs1956545 		1 14 64386187 intron variant C/T snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs5015480
rs5015480 		9 0.851 0.120 10 92705802 downstream gene variant C/T snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs7169289
rs7169289 		2 1.000 0.040 15 57951485 downstream gene variant G/A snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs452159
rs452159
ADA
2 1.000 0.040 20 44642461 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs2276731
rs2276731
ALDH1L1
1 3 126155545 non coding transcript exon variant C/T snv 0.83 0.83 0.010 1.000 1 2016 2016
dbSNP: rs2305225
rs2305225
ALDH1L1
1 3 126131662 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs4646733
rs4646733
ALDH1L1
1 3 126131258 intron variant C/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs766422988
rs766422988
AMT
1 3 49417962 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs11247593
rs11247593
ARID1A
1 1 26725589 intron variant G/A snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 0.667 3 2003 2018
dbSNP: rs777628969
rs777628969
CALR ; MIR6515
1 19 12940603 missense variant A/C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
dbSNP: rs2336573
rs2336573
CD320
1 19 8302825 missense variant C/T snv 5.9E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs9426
rs9426
CD320
1 19 8302274 3 prime UTR variant C/T snv 5.5E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2015 2015
dbSNP: rs737865
rs737865
COMT ; TXNRD2
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.020 1.000 2 2014 2015
dbSNP: rs2855658
rs2855658
CYP1B1 ; RMDN2
2 2 38069747 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs562920966
rs562920966
DACT1
1 14 58645694 missense variant A/T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs778976254
rs778976254
DACT1
2 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.030 1.000 3 2003 2010