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: rs9388451
rs9388451 		3 0.882 0.120 6 125769231 regulatory region variant T/A;C snv 0.830 1.000 4 2013 2017
dbSNP: rs12567209
rs12567209 		6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs773116244
rs773116244
ATXN2
1 1.000 0.080 12 111453841 missense variant T/A;C snv 4.1E-06; 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs1373685560
rs1373685560
CACNA1C
1 1.000 0.080 12 2608570 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1166932620
rs1166932620
GJA1
1 1.000 0.080 6 121447016 stop gained C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs530633057
rs530633057
GJA1
1 1.000 0.080 6 121447471 synonymous variant C/T snv 4.8E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs201375192
rs201375192
HCN4
1 1.000 0.080 15 73367687 missense variant G/A snv 3.8E-04 1.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs149344567
rs149344567
KCND3
2 0.925 0.120 1 111776247 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs150401343
rs150401343
KCND3
2 0.925 0.080 1 111780713 missense variant G/A snv 1.3E-04 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs12720441
rs12720441
KCNH2
2 1.000 0.080 7 150950216 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 3 2002 2012
dbSNP: rs199473547
rs199473547
KCNH2
1 1.000 0.080 7 150945441 missense variant C/T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs72554071
rs72554071
KCNJ8 ; LOC105369689
4 0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs1268070
rs1268070
LINC02523 ; LOC105377986
1 1.000 0.080 6 125720018 non coding transcript exon variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs140389574
rs140389574
LRRC10
1 1.000 0.080 12 69610633 missense variant G/A snv 2.5E-03 4.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs762144273
rs762144273
LRRC10
1 1.000 0.080 12 69610454 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs377504106
rs377504106
PKP2
1 1.000 0.080 12 32802533 synonymous variant T/A;C snv 4.0E-06; 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs751751942
rs751751942
RANGRF ; SLC25A35
1 1.000 0.080 17 8289312 missense variant G/A;C snv 4.0E-06; 3.2E-05 0.020 1.000 2 2011 2018
dbSNP: rs140704891
rs140704891
RANGRF ; SLC25A35
1 1.000 0.080 17 8289059 stop gained G/A;T snv 4.0E-06; 4.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs370613922
rs370613922
RANGRF ; SLC25A35
1 1.000 0.080 17 8289425 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs10428132
rs10428132
SCN10A
2 0.925 0.120 3 38736063 intron variant T/G snv 0.67 0.830 1.000 4 2013 2018
dbSNP: rs10428168
rs10428168
SCN10A
1 1.000 0.080 3 38738568 intron variant T/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs11129801
rs11129801
SCN10A
1 1.000 0.080 3 38708884 intron variant A/G snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs12638572
rs12638572
SCN10A
1 1.000 0.080 3 38746306 intron variant A/G;T snv 0.700 1.000 1 2013 2013