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: rs1430282035
rs1430282035
20 34996388 missense variant G/A snv 8.3E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs771172991
rs771172991
20 34987284 splice donor variant AG/- delins 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0