rs1554402092, CAMK2B

N. diseases: 8
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
7 1.000 7 44254555 missense variant C/T snv 0.800 1.000 2 2017 2018
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
Congenital digestive system anomalies
CUI: C0266015
Disease: Congenital digestive system anomalies
5 1.000 7 44254555 missense 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 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017