Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
rs864309530
LYST
1 235806165 missense variant G/T snv 3
rs104895358
MVK
12 109595148 missense variant G/A snv 1.2E-05 2
rs3832879
FGF23
12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 2
rs5743507
BPI
1.000 20 38310650 splice region variant G/C snv 9.4E-02 8.6E-02 2
rs62641689
HCN4
15 73323818 missense variant C/A;T snv 3.2E-03 2
rs7805622
LOC100240728
7 56483270 non coding transcript exon variant A/G;T snv 2
rs876538 1 159705927 upstream gene variant T/A;C snv 2
rs1204135596
NLRP3
1 247425398 missense variant A/G snv 4.0E-06 1
rs1424748509
TNFRSF1A
12 6330859 missense variant C/T snv 4.0E-06 1
rs2808635 1 159724419 intergenic variant G/C;T snv 1
rs41550816
HLA-B ; HLA-C
6 31271178 missense variant C/T snv 1
rs755789256
EXOC1
4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 1
rs766778566
MEFV
16 3243532 missense variant C/T snv 8.0E-06 1.4E-05 1
rs781431904
PSEN1
14 73192663 missense variant A/G snv 1.2E-05 1
rs1057518827
NLRP3
1.000 0.040 1 247425248 missense variant A/G snv 3
rs11568658
SNORD13G ; ABCC4
0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 3
rs1055229
LINC01857
1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 2
rs12939622
DDX52
1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 2
rs2227288
CD320
1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 2
rs4262994
SYNRG
1.000 0.040 17 37591398 intron variant A/C snv 0.17 2
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 9
rs1732778 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 5
rs11575933
ADAMTS13
0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 3
rs199473092
SCN5A
0.925 0.080 3 38608175 missense variant A/C snv 3