DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Multiple congenital anomalies

Source: INFERRED ×

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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
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs121909574	TFAP2A-AS2 ; TFAP2A	0.724	0.400	6	10404509	missense variant	T/A;C;G	snv	4.6E-06		17
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	17
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	12
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs869025195	RIT1	0.790	0.280	1	155904493	missense variant	T/G	snv			11
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	9
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		7
rs386834236	GAA	0.882	0.120	17	80104542	intron variant	T/G	snv	3.4E-03	3.8E-03	6
rs587777450	PIEZO2	0.790	0.320	18	10671729	missense variant	C/T	snv			6
rs775883520	TMEM67	0.851	0.240	8	93780603	missense variant	A/G	snv	8.0E-06	7.0E-06	6
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			6
rs1057519430	DDX3X	0.925		X	41346946	missense variant	C/T	snv			5
rs113001196	FBN1	0.882	0.160	15	48432947	stop gained	G/A	snv			5
rs121434407	LOC101929270 ; GLE1	0.882	0.120	9	128536414	missense variant	G/A	snv	2.7E-04	9.8E-05	5
rs121918490	FGFR2	0.851	0.080	10	121517342	missense variant	G/C	snv			5
rs137853229	RECQL4	0.851	0.240	8	144513412	stop gained	G/A	snv	1.2E-04	8.4E-05	5
rs201108965	TMEM216	0.851	0.320	11	61393965	missense variant	G/A;T	snv	8.0E-06; 1.7E-04		5
rs397514481	PLCB4	0.882	0.040	20	9409080	missense variant	G/A;T	snv			5