rs1057519444, SYN3

N. diseases: 5
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.
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
6 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0