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: rs1458836
rs1458836
UVRAG ; UVRAG-DT
1 1.000 0.040 11 75813751 non coding transcript exon variant C/T snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs2039381
rs2039381
IFNE ; MIR31HG
3 0.882 0.040 9 21481484 stop gained G/A snv 4.5E-02 3.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs2670660
rs2670660
NLRP1
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7933235
rs7933235
UVRAG
1 1.000 0.040 11 75829541 intron variant A/G snv 0.21 0.010 1.000 1 2010 2010