DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Abnormality, C0000768

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
rs786201044	PTEN	0.827	0.200	10	87933165	missense variant	T/C	snv			8
rs12720071	CNR1	0.807	0.200	6	88141462	3 prime UTR variant	T/C	snv		0.11	7
rs7650466	EPHA3	0.851	0.200	3	89481208	3 prime UTR variant	C/T	snv		0.23	7
rs1057519320	FBN1	0.807	0.160	15	48444574	missense variant	G/A	snv			7
rs1057519321	FBN2	0.807	0.160	5	128349391	missense variant	C/A;T	snv			7
rs121918355	LTBP2	0.807	0.280	14	74555629	stop gained	G/A;T	snv	2.1E-05; 4.2E-06		7
rs368705607	MIXL1	0.882	0.120	1	226225766	missense variant	T/C;G	snv	2.8E-05; 4.0E-06		7
rs57865060	CYP1B1-AS1 ; CYP1B1	0.827	0.160	2	38074704	missense variant	C/T	snv	1.1E-02	5.7E-03	6
rs104894378	TBX5	0.882	0.120	12	114385521	missense variant	C/G;T	snv			6
rs587777108	ATL3 ; LOC107984336	0.925	0.080	11	63646550	missense variant	T/C	snv			5
rs104893951	FOXC1	0.851	0.080	6	1610780	missense variant	T/A;C	snv	8.0E-06		5
rs121909173	HESX1	0.851	0.240	3	57199901	missense variant	C/G	snv	2.8E-05	1.4E-05	5
rs756632799	LOC107985405 ; PIGT	0.882	0.080	20	45416579	stop gained	G/T	snv	1.6E-05	7.0E-06	5
rs4954218	MAP3K19	0.925	0.080	2	135045855	intron variant	G/T	snv		0.83	5
rs527236031	PIGT ; MIR6812	0.882	0.080	20	45424323	missense variant	C/T	snv	1.6E-05	4.2E-05	5
rs104894381	TBX5	0.925	0.120	12	114401830	missense variant	C/T	snv			5
rs104894232	HYLS1 ; PUS3	0.925	0.160	11	125900000	missense variant	A/G	snv	1.1E-03	1.0E-03	4
rs587777570	KIF5C	1.000		2	148947018	missense variant	G/A	snv			4
rs121912974	POR	0.882	0.240	7	75983548	missense variant	G/C	snv	2.4E-04	2.2E-04	4
rs28939086	SLC26A4	0.925	0.160	7	107690220	missense variant	A/C;G	snv	2.0E-04; 4.0E-06		4
rs1554442016	TWIST1	0.882	0.080	7	19116972	missense variant	T/A;C	snv			4
rs80338852	B3GLCT	0.925	0.200	13	31317599	stop gained	T/A;C	snv	8.0E-06		3
rs201968272	DDX11	0.925	0.160	12	31089147	missense variant	G/A	snv			3
rs201405525	DECR1	0.925	0.240	8	90044993	missense variant	G/A;C	snv	4.5E-04; 4.0E-06		3
rs121918214	FTO	1.000	0.200	16	53873837	missense variant	G/A	snv	4.0E-06	7.0E-06	3