DisGeNET - a database of gene-disease associations

List of associated variants

Feeding difficulties, C0232466

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
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs1559662068	BRPF1	0.925		3	9741340	frameshift variant	AG/T	delins			10
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1563595095	CHD7	0.776	0.320	8	60781285	frameshift variant	AA/T	delins			10
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs724159953	DYRK1A	1.000		21	37505352	stop gained	C/T	snv			7
rs724159951	DYRK1A			21	37493101	missense variant	T/C	snv			6
rs724159956	DYRK1A			21	37496249	frameshift variant	-/G	delins			6
rs724159948	DYRK1A ; LOC105372797	1.000		21	37490273	stop gained	C/T	snv			7
rs724159950	DYRK1A ; LOC105372797	1.000	0.200	21	37486571	frameshift variant	TGAG/GAA	delins			6
rs724159954	DYRK1A ; LOC105372797			21	37490353	frameshift variant	-/A	delins			6
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs527624522	EXT2	0.925	0.080	11	44107723	missense variant	C/T	snv	6.4E-05	2.1E-05	5
rs772037717	FBXL4	0.882	0.080	6	98875675	missense variant	A/G	snv	1.2E-05	1.4E-05	8
rs1218912272	FLG-AS1 ; FLG	0.925	0.160	1	152314342	stop gained	T/A	snv	4.0E-06		8
rs1114167294	FOXP4	0.925		6	41587455	frameshift variant	T/-	del			4
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30