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: rs397507517
rs397507517
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0