rs1557714302, PPT1

N. diseases: 3
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 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0