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: rs587781237
rs587781237
UBE3A ; SNHG14
1 1.000 0.080 15 25354679 missense variant A/C snv 0.800 1.000 5 1998 2016