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: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.900 0.938 16 2010 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.880 1.000 10 2001 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.840 1.000 6 2009 2016
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.820 1.000 4 2010 2019
dbSNP: rs738722
rs738722
CHEK2
4 0.882 0.120 22 28734024 intron variant T/C snv 0.67 0.810 1.000 2 2010 2012
dbSNP: rs1042026
rs1042026
ADH1B
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.800 1.000 2 2010 2012
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.800 1.000 2 2010 2011
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 2 2010 2011
dbSNP: rs3805322
rs3805322
ADH4 ; LOC100507053
2 1.000 0.080 4 99135847 intron variant A/G snv 1.1E-02 0.800 1.000 2 2010 2012
dbSNP: rs17450420
rs17450420 		1 13 104386796 intergenic variant A/G snv 5.9E-02 0.800 1.000 1 2012 2012
dbSNP: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.800 1.000 1 2012 2012
dbSNP: rs2239612
rs2239612
ST6GAL1
2 1.000 0.040 3 187075454 intron variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs2239815
rs2239815
XBP1
3 0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs2847281
rs2847281
PTPN2
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.800 1.000 1 2012 2012
dbSNP: rs4785204
rs4785204
HEATR3
2 1.000 0.040 16 50069823 intron variant C/T snv 8.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs4822983
rs4822983
CHEK2
3 0.925 0.080 22 28719078 intron variant C/T snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs6503659
rs6503659 		2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs9288520
rs9288520 		1 2 216616548 intergenic variant G/A snv 0.14 0.800 1.000 1 2012 2012
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.730 0.750 4 2010 2016
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.710 1.000 2 2012 2017
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.710 1.000 2 2012 2017
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
2 1.000 0.080 10 94285156 intron variant G/A snv 0.32 0.700 1.000 2 2010 2012
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.700 1.000 2 2010 2012
dbSNP: rs1000668
rs1000668
TMC1
1 9 72790943 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011