BBIP1, BBSome interacting protein 1, 92482

N. diseases: 37; N. variants: 1
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: rs515726134
rs515726134 		0.925 0.120 10 110900466 stop gained A/C snv 7.2E-06 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs515726134
rs515726134 		0.925 0.120 10 110900466 stop gained A/C snv 7.2E-06 1.4E-05
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.700 0