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: rs587781227
rs587781227
UBE3A ; SNHG14
1 1.000 0.080 15 25339218 frameshift variant A/- delins 0.700 1.000 1 2014 2014