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: rs1480591236
rs1480591236
OBSCN
1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs747262678
rs747262678
OBSCN
1 228279343 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0