DisGeNET - a database of gene-disease associations

List of shared variants

JOUBERT SYNDROME 9 (disorder), C2676788

Disease: MECKEL SYNDROME, TYPE 6 (disorder)

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
rs386833760	CC2D2A	0.790	0.360	4	15587929	splice donor variant	G/-	delins		1.9E-04	11
rs386833750	CC2D2A	0.807	0.360	4	15563485	stop gained	C/A;G;T	snv	2.0E-05; 2.0E-05		6
rs370880399	CC2D2A	0.827	0.360	4	15563395	stop gained	C/T	snv	1.0E-04	1.0E-04	5
rs781252161	CC2D2A	0.827	0.360	4	15533284	stop gained	C/T	snv	1.8E-05	7.0E-06	5
rs386833751	CC2D2A	0.851	0.320	4	15567676	splice acceptor variant	G/-	delins			4
rs386833759	CC2D2A	0.851	0.320	4	15580171	splice region variant	AGTA/-	delins		7.0E-06	4
rs1560184664	CC2D2A	0.882	0.360	4	15563461	frameshift variant	TA/-	delins			3
rs764719093	CC2D2A	0.882	0.360	4	15557361	stop gained	C/A;T	snv	4.0E-06; 4.0E-06; 4.0E-06		3
rs386833752	CC2D2A	0.925	0.320	4	15567729	missense variant	C/T	snv	3.8E-05	2.8E-05	2
rs386833755	CC2D2A	0.925	0.320	4	15570446	missense variant	T/C	snv	3.3E-05	2.1E-05	2
rs386833757	CC2D2A	0.925	0.320	4	15579967	frameshift variant	-/T	delins			2