Source: CLINVAR

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: rs1568162263
rs1568162263
MED24
17 40029767 missense variant G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs760297650
rs760297650
MED24
17 40022789 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0