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: rs137852858
rs137852858
BBS9
0.925 0.120 7 33336487 stop gained C/T snv
CUI: C1859567
Disease: BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 9 		0.700 0
dbSNP: rs137852858
rs137852858
BBS9
0.925 0.120 7 33336487 stop gained C/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0