BRSK2, BR serine/threonine kinase 2, 9024

N. diseases: 33; N. variants: 5
Disease: Dysmorphic facies ×
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: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2019 2019