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: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs199473573
rs199473573
SCN5A
2 0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2008 2009
dbSNP: rs77931234
rs77931234
ACADM
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.010 1.000 1 1996 1996
dbSNP: rs199473627
rs199473627
SCN5A
1 1.000 0.040 3 38551258 missense variant A/G snv 0.700 1.000 3 2008 2011
dbSNP: rs2856966
rs2856966
ADCYAP1
2 0.925 0.080 18 907709 missense variant A/G snv 0.19 0.18 0.020 1.000 2 2009 2013
dbSNP: rs1178561476
rs1178561476
KCND3
1 1.000 0.040 1 111777204 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1188884950
rs1188884950
SLC9A3 ; PP7080 ; SLC9A3-AS1
2 0.925 0.080 5 474952 missense variant A/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1361625573
rs1361625573
SLC9A3 ; SLC9A3-AS1
2 0.925 0.080 5 474979 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1893154
rs1893154
ADCYAP1
2 0.925 0.080 18 905124 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs3906956
rs3906956
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26856350 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs72552293
rs72552293
GPD1L
2 0.925 0.120 3 32140231 missense variant A/G snv 2.5E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs199472728
rs199472728
KCNQ1
2 0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04 0.700 0
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs199473124
rs199473124
SCN5A
4 0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs12133079
rs12133079
KCNJ10
2 1.000 0.040 1 160046674 intron variant C/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1880243
rs1880243
STEAP1B
1 1.000 0.040 7 22720036 intron variant C/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs137854609
rs137854609
SCN5A
3 0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs72878794
rs72878794
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
dbSNP: rs116840776
rs116840776
CAV3 ; SSUH2
2 1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs199473190
rs199473190
SCN5A
1 1.000 0.040 3 38579474 missense variant C/G;T snv 8.2E-06 0.700 1.000 3 2008 2011