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: rs775256289
rs775256289
1 12 32750046 inframe insertion A/ACTCCTGATCAGACATGAC in-del 1.6E-05 0.700 1 2017 2017