Gene: AIRE ×
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: rs121434256
rs121434256
AIRE
3 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.010 1.000 1 1998 1998
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs141480813
rs141480813
AIRE
4 0.882 0.080 21 44289752 missense variant A/T snv 2.8E-05 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs147846074
rs147846074
AIRE
3 0.925 0.200 21 44289743 missense variant C/G;T snv 1.2E-05; 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800520
rs1800520
AIRE
5 0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 0.010 1.000 1 2009 2009