DisGeNET - a database of gene-disease associations

List of associated variants

NEPHRONOPHTHISIS 11, C3150796

Source: ALL

Results per page

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
rs863225235	TMEM67	0.790	0.360	8	93782444	missense variant	C/A	snv	4.0E-06	7.0E-06	7
rs267607117	TMEM67	0.925	0.080	8	93780747	missense variant	G/T	snv			2