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: rs606231166
rs606231166
ITM2B
1 1.000 0.200 13 48261208 frameshift variant -/TTAATTTGTT delins 0.700 0