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: rs200321595
rs200321595
LRRC6
1.000 8 132632957 missense variant C/G snv 1.6E-04 1.0E-04
CUI: C3543826
Disease: CILIARY DYSKINESIA, PRIMARY, 19
CILIARY DYSKINESIA, PRIMARY, 19 		0.700 1.000 3 2012 2013
dbSNP: rs200321595
rs200321595
LRRC6
1.000 8 132632957 missense variant C/G snv 1.6E-04 1.0E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0