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: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs4657139
rs4657139 		3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs146695489
rs146695489
ABCC8
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs1563145763
rs1563145763
AKAP9
1 1.000 0.120 7 92099838 stop gained G/A snv 0.700 0
dbSNP: rs796052199
rs796052199
AKAP9
1 1.000 0.120 7 92002212 missense variant T/A snv 0.700 0
dbSNP: rs796052200
rs796052200
AKAP9
1 1.000 0.120 7 92045186 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs1408198357
rs1408198357
ANK2
1 1.000 0.120 4 113373391 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs755287627
rs755287627
ANK2
1 1.000 0.120 4 113353494 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs796052197
rs796052197
ANK2
1 1.000 0.120 4 113354767 missense variant T/C snv 0.700 0
dbSNP: rs796052198
rs796052198
ANK2
1 1.000 0.120 4 113356741 missense variant T/C snv 0.700 0
dbSNP: rs1047624774
rs1047624774
ATP2B4
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 1.000 6 2005 2016
dbSNP: rs786205748
rs786205748
CACNA1C
1 1.000 0.120 12 2566465 missense variant C/T snv 0.710 1.000 2 2015 2019
dbSNP: rs750835733
rs750835733
CACNA1C
1 1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs786205745
rs786205745
CACNA1C
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1343191564
rs1343191564
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688616 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs377564636
rs377564636
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2679529 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs749945590
rs749945590
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688601 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1085307479
rs1085307479
CALM1
1 1.000 0.120 14 90404691 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs199744595
rs199744595
CALM1
2 0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs730882252
rs730882252
CALM1
3 0.882 0.120 14 90404482 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs11551462
rs11551462
CALM2
2 0.925 0.120 2 47160802 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2017 2017