rs267606956, PNKP

N. diseases: 2
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 49862424 stop gained C/A;T snv 0.800 1.000 2 2010 2016
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 1.000 19 49862424 stop gained C/A;T snv 0.010 1.000 1 2017 2017