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: rs1057518827
rs1057518827
NLRP3
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs1057518886
rs1057518886
HMBS
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs1567608853
rs1567608853
CYBA
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C 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: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs864309530
rs864309530
LYST
3 1 235806165 missense variant G/T snv 0.700 0
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: rs199473143
rs199473143
SCN5A
3 0.925 0.080 3 38597949 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs199473092
rs199473092
SCN5A
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs61752115
rs61752115
PEX13
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs199473229
rs199473229
SCN5A
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006
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: rs199473605
rs199473605
SCN5A
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs781431904
rs781431904
PSEN1
1 14 73192663 missense variant A/G snv 1.2E-05 0.010 1.000 1 2009 2009
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: rs2072136
rs2072136
OAS3
6 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2285932
rs2285932
OAS3
5 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 0.010 1.000 1 2010 2010
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: 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: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2011 2011