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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs104895271
rs104895271
TNFRSF1A
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1055229
rs1055229
LINC01857
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs118192161
rs118192161
RYR1
5 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039
EPHA3
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1204135596
rs1204135596
NLRP3
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121917748
rs121917748
SCN2A
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12477677
rs12477677
LINC01857
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12939622
rs12939622
DDX52
2 1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1424748509
rs1424748509
TNFRSF1A
1 12 6330859 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs147080557
rs147080557
NLRP12
6 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1732778
rs1732778 		5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1800692
rs1800692
TNFRSF1A
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs199473092
rs199473092
SCN5A
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473143
rs199473143
SCN5A
3 0.925 0.080 3 38597949 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs199473229
rs199473229
SCN5A
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006