rs1555975523, CASK

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 Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0