DisGeNET - a database of gene-disease associations

List of associated variants

Multiple congenital anomalies, C0000772

Source: CLINVAR ×

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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
rs797044962	CHAMP1	1.000		13	114325034	stop gained	C/T	snv			2
rs1554596397	TRPS1	1.000		8	115604881	stop gained	A/C	snv			2
rs1555240361	MED13L	1.000		12	115966138	stop gained	G/A	snv			2
rs1555240376	MED13L	1.000		12	115966189	missense variant	G/T	snv			2
rs1555248020	MED13L	1.000		12	116009052	stop gained	G/C	snv			3
rs781978013	KMT2A	1.000		11	118472681	stop gained	G/A;T	snv	4.0E-06		3
rs782297546	KMT2A	0.925	0.240	11	118473471	frameshift variant	C/-;CC	delins			5
rs1555039606	KMT2A	1.000		11	118482436	frameshift variant	A/-	delins			2
rs1555046615	KMT2A	1.000		11	118503389	frameshift variant	A/-	del			3
rs1555047506	KMT2A			11	118505003	frameshift variant	GTTT/-	delins			2
rs786205154	ETV6	1.000	0.120	12	11885921	coding sequence variant	GAACA/-	delins			3
rs869312965	GLI2	1.000		2	120955349	frameshift variant	G/-	del			2
rs1553477189	GLI2			2	120982843	frameshift variant	-/C	delins			1
rs1553479405	GLI2	1.000		2	120989603	frameshift variant	C/-	del			3
rs1554200990	GJA1	1.000		6	121446960	missense variant	G/C	snv			4
rs121918490	FGFR2	0.851	0.080	10	121517342	missense variant	G/C	snv			5
rs1554928978	FGFR2	1.000		10	121517425	splice acceptor variant	CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/-	delins			2
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			6
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs763100457	MAN2B1	1.000	0.080	19	12652271	splice acceptor variant	C/A	snv	8.0E-06	2.1E-05	2
rs80338677	MAN2B1	0.925	0.080	19	12655693	splice donor variant	C/G	snv	9.3E-05	7.7E-05	4
rs767858333	DOCK1	1.000		10	127042665	frameshift variant	-/G	delins	4.0E-06; 1.6E-05		2
rs758522459	TRUB2 ; COQ4	0.925		9	128323147	missense variant	G/C	snv	4.3E-05	7.0E-05	3
rs1045118320	COQ4	0.925		9	128332219	missense variant	C/A	snv		7.0E-06	3
rs121434407	LOC101929270 ; GLE1	0.882	0.120	9	128536414	missense variant	G/A	snv	2.7E-04	9.8E-05	5