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: rs1131692272
rs1131692272
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0