rs1554121875, CAMK2A

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.
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
Delayed speech and language development
192 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 5 150250281 missense variant T/C 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 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
8 0.882 0.040 5 150250281 missense variant T/C snv 0.800 1.000 4 2015 2018
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
Urogenital Abnormalities
CUI: C0042063
Disease: Urogenital Abnormalities
3 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017