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: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs587777589
rs587777589
AARS2
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2014 2014
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs780581250
rs780581250
PMM2
2 0.925 0.120 16 8813015 missense variant T/C snv 1.6E-05 0.010 1.000 1 2001 2001