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: rs1034395178
rs1034395178
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2018 2018
dbSNP: rs1469540056
rs1469540056
22 20982433 missense variant G/C;T snv 5.1E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs189150283
rs189150283
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0