rs869312812, PGAP3

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.
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 1.000 17 39684627 frameshift variant G/-;GG delins 0.700 1.000 2 2016 2018
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
CUI: C3810354
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
14 1.000 17 39684627 frameshift variant G/-;GG delins 0.700 1.000 2 2016 2018