GAS8, growth arrest specific 8, 2622

N. diseases: 60; N. variants: 7
Disease: CILIARY DYSKINESIA, PRIMARY, 33 ×
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: rs147993982
rs147993982 		1.000 16 90040460 missense variant C/T snv 2.1E-05 1.4E-05
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		0.700 1.000 3 2015 2016
dbSNP: rs566755911
rs566755911 		1.000 16 90040357 stop gained C/T snv 4.2E-06
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		0.700 0
dbSNP: rs748688175
rs748688175 		1.000 16 90037764 stop gained C/A;T snv 4.0E-06
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		0.700 0
dbSNP: rs755553133
rs755553133 		1.000 16 90037837 stop gained C/T snv 3.6E-05 7.0E-06
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		0.700 0