Source: BEFREE ×
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: rs10081254
rs10081254
ADCYAP1R1
1 1.000 0.040 7 31082056 intron variant C/T snv 0.12 0.010 1.000 1 2013 2013
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: rs1178561476
rs1178561476
KCND3
1 1.000 0.040 1 111777204 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1186688
rs1186688
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160055093 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs12133079
rs12133079
KCNJ10
1 1.000 0.040 1 160046674 intron variant C/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1310230286
rs1310230286
SCN5A
1 1.000 0.040 3 38604872 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17375748
rs17375748
KCNJ10
1 1.000 0.040 1 160040361 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1801030
rs1801030
SULT1A1
1 1.000 0.040 16 28606164 missense variant C/G;T snv 8.1E-06; 0.98 0.010 1.000 1 2015 2015
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: rs199472856
rs199472856
KCNH2
1 1.000 0.040 7 150974717 stop gained T/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs2267734
rs2267734
ADCYAP1R1
1 1.000 0.040 7 31095857 intron variant G/A snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs2302475
rs2302475
ADCYAP1R1
1 1.000 0.040 7 31081886 intron variant T/C snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs368660364
rs368660364
SNTA1
1 1.000 0.040 20 33408748 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2009 2009
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: 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: rs758995
rs758995
ADCYAP1R1
1 1.000 0.040 7 31064948 intron variant G/A snv 0.12 0.17 0.010 1.000 1 2013 2013
dbSNP: rs8192597
rs8192597
ADCYAP1
1 1.000 0.040 18 907674 synonymous variant G/A snv 0.73 0.67 0.010 1.000 1 2013 2013
dbSNP: rs7626962
rs7626962
SCN5A
8 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.750 0.800 5 2006 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: 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: 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: rs786205867
rs786205867
KCND3
2 0.882 0.080 1 111787039 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1064795287
rs1064795287
KCNH2
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs121434278
rs121434278
ACADM
3 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1997 1997