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: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.070 1.000 7 2007 2019
dbSNP: rs2470893
rs2470893
CYP1A1
8 0.882 0.160 15 74727108 upstream gene variant C/T snv 0.20 0.030 1.000 3 2012 2016
dbSNP: rs2472297
rs2472297 		9 0.882 0.160 15 74735539 intergenic variant C/T snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs4410790
rs4410790
AHR ; LOC101927609
9 0.882 0.160 7 17244953 intron variant T/C snv 0.54 0.030 1.000 3 2012 2017
dbSNP: rs118192178
rs118192178
RYR1
4 0.882 0.120 19 38500898 missense variant C/G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs6968865
rs6968865
AHR ; LOC101927609
1 7 17247645 5 prime UTR variant A/T snv 0.54 0.020 1.000 2 2012 2016
dbSNP: rs10252701
rs10252701
AHR ; LOC101927609
1 7 17240889 intron variant A/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10772420
rs10772420
PRH1 ; PRR4 ; TAS2R14 ; TAS2R19 ; PRH1-PRR4 ; PRH1-TAS2R14
1 12 11021677 missense variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
DRD2
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11724635
rs11724635
BST1
3 0.925 0.080 4 15735478 intron variant C/A;G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs118192161
rs118192161
RYR1
5 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs118192162
rs118192162
RYR1
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs118192164
rs118192164
RYR1 ; LOC107985290
3 0.925 0.080 19 38525455 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs118192170
rs118192170
RYR1
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs118192172
rs118192172
RYR1
5 0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04 0.010 1.000 1 1996 1996
dbSNP: rs118192176
rs118192176
RYR1
4 0.882 0.120 19 38494579 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs118192177
rs118192177
RYR1
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918592
rs121918592
RYR1
4 0.882 0.080 19 38448712 missense variant G/A;C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918593
rs121918593
RYR1
3 0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1255998
rs1255998
ESR2
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1401116572
rs1401116572
RYR2
2 1.000 0.080 1 237441382 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1415931588
rs1415931588
RYR2
2 1.000 0.080 1 237377426 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs142310826
rs142310826 		3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs1495741
rs1495741 		9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.010 1.000 1 2015 2015