BBS9, Bardet-Biedl syndrome 9, 27241

N. diseases: 82; N. variants: 45
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: rs1362227
rs1362227 		7 33472019 intron variant A/C snv 0.64
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018