rs1564069807, AGTPBP1

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.
Aplasia/Hypoplasia of the cerebellum
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
5 0.925 0.040 9 85619213 splice donor variant A/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 9 85619213 splice donor variant A/C snv 0.700 0
Polyneuropathy, Motor
CUI: C0271683
Disease: Polyneuropathy, Motor
3 0.925 0.040 9 85619213 splice donor variant A/C snv 0.700 0