DisGeNET - a database of gene-disease associations

List of associated variants

Multiple congenital anomalies, C0000772

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
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs775883520	TMEM67	0.851	0.240	8	93780603	missense variant	A/G	snv	8.0E-06	7.0E-06	6
rs137853229	RECQL4	0.851	0.240	8	144513412	stop gained	G/A	snv	1.2E-04	8.4E-05	5
rs782297546	KMT2A	0.925	0.240	11	118473471	frameshift variant	C/-;CC	delins			5
rs886039392	ITPR1	0.882	0.240	3	4645678	missense variant	C/T	snv			4
rs150940923	THOC6	1.000	0.240	16	3027170	missense variant	G/C	snv	1.8E-04	2.0E-04	3
rs1553565140	TWIST2 ; LOC100287387	0.925	0.240	2	238848438	missense variant	G/A;C	snv			3
rs763344375	HCFC1R1 ; THOC6	0.925	0.240	16	3026101	stop gained	C/T	snv	4.0E-06	7.0E-06	3
rs398122828	COL11A1	1.000	0.240	1	102915630	splice donor variant	C/T	snv			2
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs111033178	MYO7A	0.851	0.200	11	77190108	missense variant	G/A	snv	7.5E-05	5.6E-05	6
rs864309503	MORC2	0.882	0.200	22	30941503	missense variant	G/A	snv			5
rs1057521083	SATB2	0.925	0.200	2	199348709	missense variant	G/A	snv			4
rs122445110	ATRX	0.882	0.200	X	77589902	missense variant	A/G	snv			4
rs398122407	VPS33B	1.000	0.200	15	91004872	splice region variant	C/G	snv	2.0E-05		2
rs515726137	LOC100505549 ; ATP8B1	1.000	0.200	18	57669422	stop gained	C/A	snv		1.4E-05	2
rs864309703	GJA8	1.000	0.200	1	147908106	missense variant	G/A;C;T	snv			2
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			7
rs1131692232	PUF60	0.851	0.160	8	143818426	inframe deletion	GGGCAAAGG/-	delins			6
rs113001196	FBN1	0.882	0.160	15	48432947	stop gained	G/A	snv			5
rs397507529	PTPN11	0.851	0.160	12	112473031	missense variant	A/G	snv		7.0E-06	5