FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Acromicric 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: rs193922204
rs193922204 		0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0