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: rs749361897
rs749361897 		1.000 0.040 11 68044303 stop gained C/A;T snv 4.0E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012