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: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
Abnormal respiratory motile cilium morphology
0.700 0
dbSNP: rs770861172
rs770861172
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
0.700 0