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: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.020 1.000 2 2010 2014
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: rs10494366
rs10494366
NOS1AP ; LOC105371475
6 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2009 2009
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: 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: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2019 2019
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: rs2069727
rs2069727
IFNG ; IFNG-AS1
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2019 2019
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: 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: rs9951307
rs9951307
AQP4-AS1
5 0.882 0.120 18 26850565 intron variant G/A snv 0.65 0.010 1.000 1 2014 2014
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: 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: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2017 2017
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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
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: 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
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: 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