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: rs797044521
rs797044521
DYRK1A ; LOC105372797
0.925 21 37480768 frameshift variant A/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2015 2015