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: rs199476146
rs199476146
TPM2
2 0.925 0.120 9 35689796 inframe deletion CTT/- delins 0.700 1.000 3 2013 2015