DisGeNET - a database of gene-disease associations

List of associated variants

Meckel syndrome type 1, C3714506

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
rs74315394	MKKS	0.851	0.440	20	10412791	missense variant	C/A	snv	5.2E-03	5.0E-03	4
rs281797258	MKKS	0.882	0.400	20	10413265	missense variant	G/A	snv	4.0E-06	2.4E-04	3
rs1487082103	TGFB1 ; B9D2	0.925	0.320	19	41354927	missense variant	T/G	snv	8.2E-06		2
rs1555596845	MKS1	0.882	0.320	17	58206493	frameshift variant	GTGACAGTGCCTGTGGTCTCTGTGCGGAG/-	delins			3
rs386834044	MKS1	0.851	0.320	17	58206501	frameshift variant	-/CCTG	delins	7.2E-05	7.0E-06	4
rs762668200	MKS1	0.882	0.320	17	58206543	splice acceptor variant	-/C	delins	6.5E-05	7.0E-06	3
rs1555596943	MKS1	0.882	0.320	17	58206549	splice acceptor variant	T/C	snv			3
rs386834043	MKS1	0.851	0.320	17	58206553	splice region variant	ATGCCATTGGGACAGCCTCAGGTTTCTGC/-	delins		1.3E-03	4
rs865870355	MKS1	0.882	0.320	17	58207098	frameshift variant	G/-	delins	8.0E-06	2.1E-05	3
rs863225210	MKS1	0.925	0.320	17	58207906	missense variant	G/A	snv			2
rs773684291	MKS1	0.925	0.320	17	58207959	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		2
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6
rs754279998	MKS1	0.776	0.360	17	58208153	inframe deletion	GAG/-	delins	2.0E-05	1.4E-05	10
rs794727070	MKS1	0.882	0.320	17	58208585	splice acceptor variant	T/G	snv			3
rs199874059	MKS1	0.882	0.320	17	58210658	splice donor variant	C/T	snv	6.0E-05	2.1E-05	3
rs386834053	MKS1	0.925	0.320	17	58210980	missense variant	C/T	snv	2.0E-05	2.1E-05	2
rs863225208	MKS1	0.925	0.320	17	58210988	missense variant	C/T	snv			2
rs756102768	MKS1	0.882	0.320	17	58212981	splice donor variant	C/G;T	snv	4.0E-06; 4.0E-06		3
rs797045706	MKS1	0.882	0.320	17	58212996	stop gained	G/A	snv		7.0E-06	3
rs1555599412	MKS1	0.827	0.320	17	58213011	stop gained	C/A	snv			5
rs1376664664	MKS1	0.882	0.320	17	58214739	splice donor variant	A/C;G	snv	4.1E-06		3
rs201933838	MKS1	0.882	0.320	17	58214740	splice donor variant	C/T	snv	1.2E-05		3
rs756853299	MKS1	0.882	0.320	17	58214748	stop gained	G/A	snv	8.2E-06		3
rs201845154	MKS1	1.000	0.320	17	58214760	missense variant	G/A	snv	1.8E-04	3.4E-04	1
rs386834048	MKS1	0.827	0.320	17	58216088	splice region variant	C/T	snv	1.3E-04	1.3E-04	5