BRSK2, BR serine/threonine kinase 2, 9024

N. diseases: 33; N. variants: 5
Disease: Abnormally large globe ×
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: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		0.700 1.000 1 2019 2019