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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.900 1.000 11 2005 2019
dbSNP: rs1789891
rs1789891
ADH1B
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.820 1.000 4 2012 2019
dbSNP: rs750338
rs750338
PKNOX2
3 1.000 0.080 11 125302697 intron variant A/G snv 0.30 0.810 1.000 1 2011 2011
dbSNP: rs1000579
rs1000579
STX18-AS1
3 1.000 0.080 4 4717767 intron variant A/G snv 0.44 0.800 1.000 2 2012 2017
dbSNP: rs896543
rs896543
LOC107986001
3 1.000 0.080 2 236600564 intergenic variant G/A snv 0.33 0.800 1.000 2 2013 2014
dbSNP: rs2835872
rs2835872
KCNJ6
3 1.000 0.080 21 37654970 intron variant G/A snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs4478858
rs4478858
SERINC2
3 1.000 0.080 1 31411078 intron variant T/C snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs6701037
rs6701037 		3 1.000 0.080 1 175150943 downstream gene variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs6777876
rs6777876 		3 1.000 0.080 3 11915124 upstream gene variant A/G snv 9.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs7590720
rs7590720
MREG ; PECR
3 1.000 0.080 2 216033935 intron variant G/A snv 0.73 0.800 1.000 1 2009 2009
dbSNP: rs2066702
rs2066702
ADH1B
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.720 1.000 4 2014 2019
dbSNP: rs1614972
rs1614972
ADH1B ; ADH1C
4 0.925 0.160 4 99336998 intron variant C/T snv 0.38 0.710 1.000 2 2013 2014
dbSNP: rs2173201
rs2173201
ADH1B
3 1.000 0.080 4 99329813 intron variant C/A snv 0.30 0.710 1.000 2 2014 2014
dbSNP: rs10196867
rs10196867
CTNNA2
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs139438618
rs139438618
SEMA3A
5 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 0.710 1.000 1 2017 2017
dbSNP: rs147247472
rs147247472
AGBL4 ; AGBL4-IT1
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.710 1.000 1 2019 2019
dbSNP: rs2133896
rs2133896
ANKS1B
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.710 1.000 1 2019 2019
dbSNP: rs2168784
rs2168784 		3 1.000 0.080 3 164872151 intergenic variant C/T snv 0.24 0.710 1.000 1 2014 2014
dbSNP: rs34997829
rs34997829
LHPP
4 1.000 0.080 10 124546821 intron variant G/C snv 0.24 0.710 1.000 1 2017 2017
dbSNP: rs10198241
rs10198241 		4 0.925 0.080 2 226115660 intergenic variant T/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs10211296
rs10211296
CSRNP3
3 1.000 0.080 2 165633833 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs10392
rs10392
PPP1R16B
6 0.882 0.160 20 38922292 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs10483038
rs10483038
KCNJ6
3 1.000 0.080 21 37652469 intron variant T/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1057302
rs1057302
KIAA0040
1 1.000 0.080 1 175157287 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2011 2011