Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852857
rs137852857
BBS9
0.925 0.120 7 33177570 missense variant G/A snv
CUI: C1859567
Disease: BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 9 		0.800 1.000 0 2005 2015