Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553403917
rs1553403917
0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C3150077
Disease: Mild short stature
Mild short stature
0.700 1.000 1 2018 2018