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
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
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
rs267607144	TRPV4	0.716	0.360	12	109800665	missense variant	C/T	snv			17
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
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
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	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
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv			9
rs587777450	PIEZO2	0.790	0.320	18	10671729	missense variant	C/T	snv			9
rs137852769	GAREM2 ; HADHA	0.827	0.280	2	26195184	missense variant	C/G	snv	1.2E-03	1.0E-03	7
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			7