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: rs1230432769
rs1230432769
KCND1 ; OTUD5
X 48962751 missense variant G/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs376253982
rs376253982
KCND1
X 48966313 splice region variant C/A snv 2.0E-04 2.1E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0