rs1564069651, AGTPBP1

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.
Aplasia/Hypoplasia of the cerebellum
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
5 1.000 9 85619123 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 9 85619123 missense variant T/C snv 0.700 0