FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Williams 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: rs1441536824
rs1441536824 		0.925 0.240 15 48513551 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014