rs1554385305, CAMK2B

N. diseases: 7
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 the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Congenital digestive system anomalies
CUI: C0266015
Disease: Congenital digestive system anomalies
5 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017