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: rs200913791
rs200913791
RASSF1 ; ZMYND10
0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.800 1.000 0 2013 2018
dbSNP: rs200913791
rs200913791
RASSF1 ; ZMYND10
0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs200913791
rs200913791
RASSF1 ; ZMYND10
0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0