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 0.030 1.000 3 2007 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2006 2006
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.040 1.000 4 2007 2013
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 10 2010 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2004 2004
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2016 2016
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2012 2012
dbSNP: rs6903956
rs6903956
ADTRP
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1137070
rs1137070
MAOA
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs121907892
rs121907892
SLC22A12
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2018 2018
dbSNP: rs6855911
rs6855911
SLC2A9
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
5 0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs186459505
rs186459505
SFMBT1
5 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 1 2018 2018