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: rs375633720
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs775707132
rs775707132
CPZ ; GPR78
4 8612120 missense variant G/A;T snv 1.6E-05; 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0