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: rs201938124
rs201938124
BBS9
0.925 0.120 7 33367863 splice donor variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs201938124
rs201938124
BBS9
0.925 0.120 7 33367863 splice donor variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C1859567
Disease: BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 9 		0.700 0