TSR2, TSR2 ribosome maturation factor, 90121

N. diseases: 31; N. variants: 2
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: rs786203996
rs786203996 		1.000 X 54443418 missense variant A/G snv
CUI: C4225422
Disease: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS 		0.800 1.000 1 2014 2014
dbSNP: rs1269514277
rs1269514277 		1.000 0.160 X 54446267 stop gained G/A snv
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0