DisGeNET - a database of gene-disease associations

List of associated variants

Neck webbing, C0221217

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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs878854378	TTN ; TTN-AS1	0.742	0.320	2	178533657	inframe deletion	GTT/-	delins			33
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	24
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs759125480	CEP120	0.827	0.160	5	123377409	stop gained	G/A	snv	1.6E-05		16
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs121918461	PTPN11	0.827	0.240	12	112450362	missense variant	A/C;G;T	snv			12
rs557849165	MYH3	0.776	0.160	17	10656089	splice donor variant	C/T	snv		1.2E-03	9
rs771063992	DNAJC21	0.827	0.240	5	34937431	stop gained	C/T	snv	2.8E-05	2.8E-05	7
rs1567564042	MYH3	0.827	0.120	17	10654924	stop gained	A/C	snv			6
rs148677674	LZTR1	0.882	0.160	22	20994988	missense variant	C/A;T	snv	2.4E-05; 1.6E-04		3