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: rs774308815
rs774308815 		1.000 0.040 11 68043654 splice donor variant G/C;T snv 4.3E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2001 2015