CABP4, calcium binding protein 4, 57010

N. diseases: 29; N. variants: 11
Disease: Achromatopsia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150115958
rs150115958 		0.882 0.160 11 67457677 stop gained C/A;T snv 5.2E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019