DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Feeding difficulties

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
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
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
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs786200952	KAT6A	0.851	0.120	8	41934340	frameshift variant	-/T	delins			13
rs1085307138	PUF60 ; SCRIB	0.807	0.160	8	143817591	splice donor variant	C/T	snv			9
rs1218912272	FLG-AS1 ; FLG	0.925	0.160	1	152314342	stop gained	T/A	snv	4.0E-06		8
rs1057518681	PUF60 ; SCRIB	0.827	0.200	8	143816821	splice acceptor variant	T/C	snv			7
rs724159948	DYRK1A ; LOC105372797	1.000		21	37490273	stop gained	C/T	snv			7
rs724159953	DYRK1A	1.000		21	37505352	stop gained	C/T	snv			7
rs724159950	DYRK1A ; LOC105372797	1.000	0.200	21	37486571	frameshift variant	TGAG/GAA	delins			6
rs724159951	DYRK1A			21	37493101	missense variant	T/C	snv			6
rs724159952	LOC105372797 ; DYRK1A			21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797			21	37490353	frameshift variant	-/A	delins			6
rs724159956	DYRK1A			21	37496249	frameshift variant	-/G	delins			6
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs527624522	EXT2	0.925	0.080	11	44107723	missense variant	C/T	snv	6.4E-05	2.1E-05	5
rs1554643142	PUF60	0.925	0.120	8	143818042	frameshift variant	CCTGCCCTATGTTGCTGGG/-	delins			4