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: rs137852856
rs137852856
BBS9
0.925 0.120 7 33383668 stop gained C/T snv 8.4E-06 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs137852856
rs137852856
BBS9
0.925 0.120 7 33383668 stop gained C/T snv 8.4E-06 2.8E-05
CUI: C1859567
Disease: BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 9 		0.700 0