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: rs246871
rs246871
ITK ; MED7
3 0.882 0.160 5 157158243 intron variant T/C snv 0.42 0.010 1.000 1 2019 2019