rs1247055716, PNKP

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
CUI: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
10 1.000 19 49864178 splice donor variant C/A snv 4.2E-05 0.700 0