LRRC56, leucine rich repeat containing 56, 115399

N. diseases: 45; N. variants: 33
Disease: CILIARY DYSKINESIA, PRIMARY, 39 ×
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: rs1564800859
rs1564800859 		1.000 11 544781 splice donor variant G/A snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs1564805039
rs1564805039 		1.000 11 549994 missense variant T/C snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs1564805053
rs1564805053 		1.000 11 549999 splice donor variant G/A snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs372959912
rs372959912 		1.000 11 551266 stop gained G/A;T snv 3.4E-05 2.8E-05
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0