DisGeNET - a database of gene-disease associations

List of associated variants

BARDET-BIEDL SYNDROME 14 (disorder), C2673874

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs376493409	CEP290	0.742	0.280	12	88083161	stop gained	G/A;T	snv	7.0E-05		12
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs539400286	CEP290	0.763	0.280	12	88086083	stop gained	G/A	snv	1.6E-05	2.1E-05	9
rs1170451277	CEP290	0.776	0.280	12	88120207	stop gained	G/A	snv		1.4E-05	8
rs760915898	CEP290	0.776	0.280	12	88086038	splice donor variant	C/T	snv	5.4E-05	9.1E-05	8
rs776645403	CEP290	0.776	0.280	12	88125357	stop gained	G/A	snv	3.8E-05	2.1E-05	8
rs965522059	CEP290	0.776	0.280	12	88125370	splice acceptor variant	C/T	snv	1.5E-05		8
rs386834180	TMEM67	0.776	0.360	8	93781725	missense variant	T/C	snv	2.0E-05	4.2E-05	8
rs863225235	TMEM67	0.790	0.360	8	93782444	missense variant	C/A	snv	4.0E-06	7.0E-06	7
rs771454167	CEP290	0.827	0.240	12	88062772	frameshift variant	C/-	del	4.7E-05; 5.2E-06	2.1E-05	6
rs575767207	CEP290	0.827	0.280	12	88079112	stop gained	G/A;C	snv	2.6E-05		5
rs267606719	CEP290	0.925	0.240	12	88077227	stop gained	C/A	snv			2
rs771266705	CEP290	1.000	0.120	12	88120213	frameshift variant	TTTTA/-	delins	6.7E-06		1