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: 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
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: rs193922790
rs193922790
RYR1
2 1.000 0.040 19 38494621 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs193922802
rs193922802
RYR1
3 0.925 0.040 19 38499655 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs193922807
rs193922807
RYR1
2 1.000 0.040 19 38499731 missense variant G/C snv 0.010 1.000 1 2003 2003
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: rs2069514
rs2069514 		9 0.807 0.160 15 74745879 upstream gene variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2008 2008
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: 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
dbSNP: rs28933396
rs28933396
RYR1
4 0.882 0.120 19 38499997 missense variant G/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs28934574
rs28934574
TP53
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs2896905
rs2896905
SLC2A13
1 12 40099614 intron variant G/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3032740
rs3032740
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
1 22 24439073 intron variant TTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2008 2008
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: rs35694136
rs35694136
CYP1A2
1 15 74747272 upstream gene variant T/- del 0.23 0.010 1.000 1 2008 2008
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4822492
rs4822492
ADORA2A-AS1
4 1.000 0.040 22 24447626 intron variant C/G snv 0.47 0.010 1.000 1 2008 2008