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: rs1562005199
rs1562005199
ADGRB3
6 69382853 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562137453
rs1562137453
ADGRB3
6 69049307 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0