Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 1 2017 2017