Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886041093
rs886041093
0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0