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: rs121918338
rs121918338
CARD9
7 0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs121434254
rs121434254
AIRE
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2002 2002
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs398122363
rs398122363
CARD9
5 0.827 0.120 9 136370380 stop gained G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2018 2018
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 2014 2014
dbSNP: rs78645479
rs78645479
FOXD3 ; FOXD3-AS1
4 0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015