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: rs1057518939
rs1057518939
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs386834061
rs386834061
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0