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
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs1234344050	COL3A1 ; LOC105373791			2	188984825	missense variant	C/G	snv	4.0E-06		2
rs1554442016	TWIST1	0.882	0.080	7	19116972	missense variant	T/A;C	snv			4
rs12329305	OSR1			2	19353152	synonymous variant	C/A;T	snv	1.6E-04; 5.5E-02		1
rs387906617	CREB1			2	207567506	missense variant	A/G	snv			2
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs368705607	MIXL1	0.882	0.120	1	226225766	missense variant	T/C;G	snv	2.8E-05; 4.0E-06		7
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs201968272	DDX11	0.925	0.160	12	31089147	missense variant	G/A	snv			3
rs768746587	TCF19 ; POU5F1			6	31165136	missense variant	C/T	snv	8.4E-06		3
rs1052108705	TCF19 ; POU5F1			6	31165217	missense variant	C/T	snv	4.1E-06	2.1E-05	3
rs80338852	B3GLCT	0.925	0.200	13	31317599	stop gained	T/A;C	snv	8.0E-06		3
rs757956956	GPI			19	34377533	missense variant	A/G	snv	4.0E-06		1
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
rs57865060	CYP1B1-AS1 ; CYP1B1	0.827	0.160	2	38074704	missense variant	C/T	snv	1.1E-02	5.7E-03	6
rs764120087	EP300			22	41117439	missense variant	G/A	snv	8.0E-06		2
rs756632799	LOC107985405 ; PIGT	0.882	0.080	20	45416579	stop gained	G/T	snv	1.6E-05	7.0E-06	5
rs774753616	PIGT ; LOC107985405	1.000		20	45419351	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs527236031	PIGT ; MIR6812	0.882	0.080	20	45424323	missense variant	C/T	snv	1.6E-05	4.2E-05	5
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38