DisGeNET - a database of gene-disease associations

List of associated variants

JOUBERT SYNDROME 6, C1853153

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
rs267607116	TMEM67	0.851	0.160	8	93808861	missense variant	G/A;C	snv			8
rs386834180	TMEM67	0.776	0.360	8	93781725	missense variant	T/C	snv	2.0E-05	4.2E-05	8
rs1554555063	TMEM67	0.882	0.160	8	93791324	splice region variant	G/A	snv			7
rs863225235	TMEM67	0.790	0.360	8	93782444	missense variant	C/A	snv	4.0E-06	7.0E-06	7
rs775883520	TMEM67	0.851	0.240	8	93780603	missense variant	A/G	snv	8.0E-06	7.0E-06	6
rs267607119	TMEM67	0.827	0.360	8	93808898	missense variant	T/C	snv	4.0E-05	8.4E-05	5
rs137853108	TMEM67	0.851	0.320	8	93765617	stop gained	A/T	snv	1.8E-04	2.6E-04	4
rs202149403	TMEM67	0.851	0.360	8	93780633	missense variant	T/C;G	snv	8.4E-05		4
rs137853107	TMEM67	0.882	0.360	8	93791282	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs771551765	TMEM67	0.925	0.200	8	93815388	missense variant	G/A	snv	8.0E-06	4.2E-05	3
rs199821258	TMEM67	0.925	0.320	8	93765648	splice donor variant	T/G	snv	5.6E-05	2.8E-05	2
rs267607115	TMEM67	0.925	0.280	8	93795503	missense variant	T/C	snv	4.0E-06	1.4E-05	2
rs386834205	TMEM67	0.925	0.320	8	93772612	stop gained	G/A	snv	8.0E-06	7.0E-06	2
rs750950408	TMEM67	0.925	0.280	8	93765414	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		2
rs758948621	TMEM67	0.925	0.280	8	93797329	splice acceptor variant	A/C	snv	4.0E-06		2
rs786200867	TMEM67	0.925	0.280	8	93808957	splice donor variant	G/T	snv			2
rs797046045	TMEM67	0.925	0.280	8	93755851	missense variant	G/T	snv		7.4E-06	2
rs863225225	TMEM67	0.925	0.280	8	93797184	missense variant	C/A	snv			2
rs863225226	TMEM67	0.925	0.280	8	93758559	missense variant	C/G	snv			2
rs863225227	TMEM67	0.925	0.280	8	93780647	missense variant	A/G	snv		7.0E-06	2
rs863225228	TMEM67	0.925	0.280	8	93787884	missense variant	C/T	snv			2
rs863225231	TMEM67	0.925	0.280	8	93782455	missense variant	C/G	snv		7.0E-06	2
rs863225232	TMEM67	0.925	0.280	8	93782402	missense variant	C/T	snv		7.0E-06	2