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: rs763505389
rs763505389
DNAH17 ; DNAH17-AS1
17 78491549 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs768564744
rs768564744
DNAH17
17 78525107 missense variant C/G;T snv 4.0E-06; 4.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0