Disease: Orstavik Lindemann Solberg syndrome ×
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: rs200322968
rs200322968 		1.000 0.200 2 63492856 missense variant C/T snv 1.3E-04 1.1E-04
CUI: C1857587
Disease: Orstavik Lindemann Solberg syndrome
Orstavik Lindemann Solberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503781
rs727503781 		1.000 0.200 2 63437501 frameshift variant TA/- delins 4.2E-06 7.0E-06
CUI: C1857587
Disease: Orstavik Lindemann Solberg syndrome
Orstavik Lindemann Solberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0