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: rs1415931588
rs1415931588
RYR2
2 1.000 0.080 1 237377426 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs193922888
rs193922888
RYR1
2 1.000 0.040 19 38584976 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 1.000 1 2011 2011
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: rs16851030
rs16851030
ADORA1
1 1 203166324 3 prime UTR variant C/T snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs2896905
rs2896905
SLC2A13
1 12 40099614 intron variant G/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2012 2012
dbSNP: rs68157013
rs68157013
PRH1 ; PRR4 ; TAS2R14 ; TAS2R43 ; PRH1-PRR4 ; PRH1-TAS2R14
1 12 11092126 missense variant C/G snv 0.69 0.27 0.010 1.000 1 2014 2014
dbSNP: rs71443637
rs71443637
PRH1 ; PRR4 ; TAS2R14 ; TAS2R43 ; PRH1-PRR4 ; PRH1-TAS2R14
1 12 11091595 missense variant T/C snv 0.57 0.28 0.010 1.000 1 2014 2014
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: rs1401116572
rs1401116572
RYR2
2 1.000 0.080 1 237441382 missense variant G/A snv 0.010 1.000 1 2015 2015
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
dbSNP: rs33949390
rs33949390
LRRK2
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.010 1.000 1 2015 2015
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: rs6968865
rs6968865
AHR ; LOC101927609
1 7 17247645 5 prime UTR variant A/T snv 0.54 0.020 1.000 2 2012 2016
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: rs2470890
rs2470890
CYP1A2
12 0.742 0.320 15 74755085 synonymous variant T/C snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2472299
rs2472299 		2 1.000 0.040 15 74741059 intergenic variant A/G;T snv 0.010 1.000 1 2016 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: rs4998386
rs4998386
GRIN2A
2 1.000 0.040 16 9976688 intron variant C/T snv 0.11 0.020 0.500 2 2014 2018
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2018 2018
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: rs1350882940
rs1350882940
RMDN1
2 1.000 0.040 8 86507057 missense variant T/A snv 1.4E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs2597979
rs2597979
PRH1 ; PRR4 ; TAS2R14 ; PRH1-PRR4 ; PRH1-TAS2R14
1 12 11037367 intron variant G/C snv 0.71 0.010 1.000 1 2018 2018