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: rs180127
rs180127 		2 0.925 0.040 17 69923642 intergenic variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1972597
rs1972597 		2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs229811
rs229811 		1 1.000 0.040 14 83448259 intergenic variant G/C snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs3862188
rs3862188 		2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs7834169
rs7834169 		3 0.925 0.120 8 27052774 upstream gene variant C/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs1034220998
rs1034220998
ACOT7
1 1.000 0.040 1 6339497 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs368731455
rs368731455
ACOT7
1 1.000 0.040 1 6281212 missense variant C/T snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs758821654
rs758821654
ACOT7
1 1.000 0.040 1 6339437 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs765693356
rs765693356
ACOT7
1 1.000 0.040 1 6339527 synonymous variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.030 1.000 3 2010 2015
dbSNP: rs1573496
rs1573496
ADH7
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2238151
rs2238151
ALDH2
3 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2006 2006
dbSNP: rs26537
rs26537
AP3S1 ; ATG12
2 0.925 0.080 5 115841317 3 prime UTR variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2007 2007
dbSNP: rs4663402
rs4663402
ATG16L1
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1257821596
rs1257821596
AVP
1 1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2032809
rs2032809
BBC3
3 0.882 0.120 19 47232959 upstream gene variant T/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs3810294
rs3810294
BBC3 ; MIR3191
3 0.882 0.120 19 47228572 intron variant C/T snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs749710704
rs749710704
BHMT ; DMGDH
7 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2012 2012