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: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs10776934
rs10776934 		1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs10789491
rs10789491
EFCAB14
1 1.000 0.080 1 46713638 intron variant A/G snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.850 0.833 6 2010 2020
dbSNP: rs11506105
rs11506105
EGFR
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs11697186
rs11697186
DDRGK1
1 1.000 0.080 20 3204477 intron variant A/C;T snv 7.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs11854484
rs11854484
SLC28A2 ; LOC101928414
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs11966728
rs11966728 		1 1.000 0.080 6 131955465 intron variant T/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2011
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1293762
rs1293762
OAS2
1 1.000 0.080 12 112993031 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs12952093
rs12952093
LOC101928674
1 1.000 0.080 17 78367559 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12972991
rs12972991 		1 1.000 0.080 19 39241107 upstream gene variant A/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.900 1.000 41 2009 2020
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.870 1.000 9 2009 2017
dbSNP: rs12980602
rs12980602 		1 1.000 0.080 19 39262180 upstream gene variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs12989760
rs12989760
SH3YL1
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1470452230
rs1470452230
PAEP
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017