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: rs1253810269
rs1253810269
ARID1A
3 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12632942
rs12632942
SCN10A
1 1.000 0.080 3 38723507 missense variant A/G snv 0.24 0.22 0.010 1.000 1 2014 2014
dbSNP: rs12721225
rs12721225
AGTR1
1 1.000 0.080 3 148741765 missense variant G/T snv 3.7E-03 2.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs1273246817
rs1273246817
RYR2
3 0.882 0.080 1 237784169 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1291725984
rs1291725984
SHOX2
1 1.000 0.080 3 158105088 missense variant G/A snv 6.6E-06 7.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs12932445
rs12932445
ZFHX3
3 0.925 0.080 16 73035989 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1296179669
rs1296179669
MTHFR
2 0.925 0.160 1 11801338 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs13072552
rs13072552
CP
2 1.000 0.080 3 149195339 intron variant G/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs13143308
rs13143308 		4 0.882 0.120 4 110793263 upstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs13184658
rs13184658
KCNN2
1 1.000 0.080 5 114394710 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs13216675
rs13216675 		1 1.000 0.080 6 122131183 intergenic variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs1352950843
rs1352950843
SCN2B
1 1.000 0.080 11 118168281 frameshift variant CG/- delins 0.010 1.000 1 2009 2009
dbSNP: rs1364685385
rs1364685385
ACSL4 ; KCNE5
1 1.000 0.080 X 109624828 missense variant G/A snv 9.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs138163892
rs138163892
PITX2
2 0.925 0.080 4 110618481 missense variant T/C snv 2.8E-04 2.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1383209302
rs1383209302
ALOX5AP
2 0.925 0.160 13 30756000 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1406275331
rs1406275331
GATA4
2 1.000 0.080 8 11708394 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1412069210
rs1412069210
SCN3B
1 1.000 0.080 11 123638277 missense variant G/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs143945189
rs143945189
KCNK1
1 1.000 0.080 1 233666751 missense variant G/A;T snv 8.2E-03; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs145708722
rs145708722
AGTR1
1 1.000 0.080 3 148741343 missense variant T/C snv 8.0E-04 7.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs1457768351
rs1457768351
HCN4
1 1.000 0.080 15 73367502 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs148398509
rs148398509
HCN4
5 0.882 0.160 15 73323445 missense variant G/C snv 7.8E-03 7.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs1492099
rs1492099
AGTR1
5 0.882 0.120 3 148719716 intron variant T/A;C snv 0.89 0.010 1.000 1 2017 2017
dbSNP: rs149868494
rs149868494
SCN4B
2 0.925 0.080 11 118152652 missense variant C/T snv 4.1E-04 8.4E-05 0.010 1.000 1 2019 2019