rs1554386687, CAMK2B

N. diseases: 12
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 0.882 0.040 7 44242328 missense variant C/T snv 0.800 1.000 2 2017 2018
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Congenital digestive system anomalies
CUI: C0266015
Disease: Congenital digestive system anomalies
5 0.882 0.040 7 44242328 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 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
5 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017