Disease: Osteopetrosis, Autosomal Recessive 1 ×
Source: ALL
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: rs1554995341
rs1554995341 		1.000 0.040 11 68043003 frameshift variant G/-;GG delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012