Disease: Gracile bone dysplasia ×
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: rs587777013
rs587777013 		1.000 0.080 11 59153251 missense variant A/G;T snv 4.0E-06
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs587777014
rs587777014 		1.000 0.080 11 59152680 missense variant A/G snv
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs587777015
rs587777015 		1.000 0.080 11 59153247 missense variant C/A;G snv 3.2E-05
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1565206032
rs1565206032 		1.000 0.080 11 59152688 inframe deletion TTC/- delins
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587777011
rs587777011 		0.925 0.160 11 59153374 missense variant G/A snv
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0