TTC25, tetratricopeptide repeat domain 25, 83538

N. diseases: 44; N. variants: 3
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: rs35455419
rs35455419
17 41933750 intron variant A/C;G;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs886037888
rs886037888
1.000 17 41930838 splice donor variant G/C;T snv
CUI: C4310721
Disease: CILIARY DYSKINESIA, PRIMARY, 35
CILIARY DYSKINESIA, PRIMARY, 35
0.700 0
dbSNP: rs886037889
rs886037889
1.000 17 41936500 frameshift variant -/T ins
CUI: C4310721
Disease: CILIARY DYSKINESIA, PRIMARY, 35
CILIARY DYSKINESIA, PRIMARY, 35
0.700 0