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: rs875989807
rs875989807
3 0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04 0.700 0