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: 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: 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: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2227288
rs2227288
CD320
2 1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs4262994
rs4262994
SYNRG
2 1.000 0.040 17 37591398 intron variant A/C snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs7849782
rs7849782
GRIN3A
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
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: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs200956636
rs200956636
RAB27A
5 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2000 2016
dbSNP: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2014 2014
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.020 1.000 2 2015 2016
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: 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