FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Tonometry ×
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: rs545317462
rs545317462 		15 48530561 intron variant TT/-;T;TTT;TTTT;TTTTT delins
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018