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: rs797044524
rs797044524
0.925 21 37486513 missense variant A/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015