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: rs606231137
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs606231137
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.700 0
dbSNP: rs606231137
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins
CUI: C1859567
Disease: BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 9 		0.700 0