rs926027867, CAMK2A

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 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
8 0.882 0.040 5 150251808 missense variant G/A;T snv 0.800 0
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 0.882 0.040 5 150251808 missense variant G/A;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 5 150251808 missense variant G/A;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 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 5 150251808 missense variant G/A;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 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
5 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
Urogenital Abnormalities
CUI: C0042063
Disease: Urogenital Abnormalities
3 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017