rs397514627, CAMK2G

N. diseases: 4
Source: CURATED ×
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.
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
62 0.882 0.160 10 73842486 missense variant C/A;G snv 0.710 1.000 0 2018 2018
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.882 0.160 10 73842486 missense variant C/A;G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 10 73842486 missense variant C/A;G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.882 0.160 10 73842486 missense variant C/A;G snv 0.700 0