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
rs869025322	PIGY ; PYURF	0.925	0.040	4	88521653	missense variant	A/G	snv			3
rs806368	CNR1	0.752	0.280	6	88140381	3 prime UTR variant	T/C	snv		0.19	14
rs80338852	B3GLCT	0.925	0.200	13	31317599	stop gained	T/A;C	snv	8.0E-06		3
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
rs786201044	PTEN	0.827	0.200	10	87933165	missense variant	T/C	snv			8
rs781028867	FTO	1.000	0.200	16	53873846	missense variant	C/A;T	snv	4.0E-06		3
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs774753616	PIGT ; LOC107985405	1.000		20	45419351	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs769269532	SOX9-AS1 ; SOX9	1.000	0.040	17	72124262	missense variant	A/G	snv	2.4E-05	1.4E-05	2
rs768746587	TCF19 ; POU5F1			6	31165136	missense variant	C/T	snv	8.4E-06		3
rs7650466	EPHA3	0.851	0.200	3	89481208	3 prime UTR variant	C/T	snv		0.23	7
rs764120087	EP300			22	41117439	missense variant	G/A	snv	8.0E-06		2
rs757956956	GPI			19	34377533	missense variant	A/G	snv	4.0E-06		1
rs756632799	LOC107985405 ; PIGT	0.882	0.080	20	45416579	stop gained	G/T	snv	1.6E-05	7.0E-06	5
rs756434709	NOTCH1			9	136514670	missense variant	C/T	snv	2.0E-05	7.0E-06	2
rs746147592	SRPX2	1.000	0.160	X	100665627	missense variant	G/A;C	snv	5.5E-06		2
rs745616565	FTO	1.000	0.200	16	53873855	missense variant	G/A	snv	1.6E-05	2.1E-05	3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs587777570	KIF5C	1.000		2	148947018	missense variant	G/A	snv			4
rs587777186	PIGN	0.925		18	62146023	missense variant	A/G;T	snv			3
rs587777108	ATL3 ; LOC107984336	0.925	0.080	11	63646550	missense variant	T/C	snv			5
rs57865060	CYP1B1-AS1 ; CYP1B1	0.827	0.160	2	38074704	missense variant	C/T	snv	1.1E-02	5.7E-03	6
rs527236031	PIGT ; MIR6812	0.882	0.080	20	45424323	missense variant	C/T	snv	1.6E-05	4.2E-05	5
rs524153	WNT5A			3	55491957	upstream gene variant	T/A;G	snv			1