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: rs386833675
rs386833675
AIRE
2 0.925 0.080 21 44291180 frameshift variant CTGTCCCCTCCGC/- delins 0.700 0
dbSNP: rs387906295
rs387906295
AIRE
1 1.000 0.080 21 44289793 frameshift variant C/- del 1.4E-05 0.700 0