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: rs28935469
rs28935469
0.846 0.179 X 154367844 missense variant G/A snp
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
0.800 2 2003 2017
dbSNP: rs28935469
rs28935469
0.846 0.179 X 154367844 missense variant G/A snp
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.700 1 2015 2015
dbSNP: rs28935469
rs28935469
0.846 0.179 X 154367844 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs28935469
rs28935469
0.846 0.179 X 154367844 missense variant G/A snp
CUI: C2240378
Disease: cleft palate on exam
cleft palate on exam
0.700 1 2015 2015