PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750215
rs63750215
0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 1997 1997