Disease: BARDET-BIEDL SYNDROME 16 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515337
rs397515337 		0.925 1 243305133 missense variant C/T snv 1.2E-04 6.3E-05
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 1.000 2 2010 2011
dbSNP: rs756907665
rs756907665 		0.925 1 243286398 splice donor variant G/A snv 1.2E-05 1.4E-05
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 1.000 1 2010 2010
dbSNP: rs267607031
rs267607031 		1.000 1 243304716 stop gained A/T snv 8.0E-06 7.0E-06
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 0
dbSNP: rs587777846
rs587777846 		1.000 1 243415711 frameshift variant ATAG/- delins
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 0
dbSNP: rs587777847
rs587777847 		1.000 1 243344298 frameshift variant AA/-;A delins
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 0
dbSNP: rs770084716
rs770084716 		1.000 1 243330591 stop gained C/G;T snv 4.0E-06
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 0
dbSNP: rs797045946
rs797045946 		0.925 1 243270976 splice acceptor variant A/G snv
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.700 0