DisGeNET - a database of gene-disease associations

List of associated variants

Feeding difficulties, C0232466

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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
rs1057518681	PUF60 ; SCRIB	0.827	0.200	8	143816821	splice acceptor variant	T/C	snv			7
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs1085307138	PUF60 ; SCRIB	0.807	0.160	8	143817591	splice donor variant	C/T	snv			9
rs1085307139	SCRIB ; PUF60	0.925	0.040	8	143817380	frameshift variant	-/C	delins			5
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1114167294	FOXP4	0.925		6	41587455	frameshift variant	T/-	del			4
rs1218912272	FLG-AS1 ; FLG	0.925	0.160	1	152314342	stop gained	T/A	snv	4.0E-06		8
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1380822792	NAA15	0.882	0.080	4	139336933	frameshift variant	CTTGA/-	delins			7
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1554641549	SCRIB ; PUF60	0.925	0.080	8	143816613	frameshift variant	TGGCCTTATGA/-	delins			3
rs1554643142	PUF60	0.925	0.120	8	143818042	frameshift variant	CCTGCCCTATGTTGCTGGG/-	delins			4
rs1554817910	ZMIZ1	1.000		10	79216266	missense variant	A/G	snv			4
rs1555257073	POMP	0.827	0.120	13	28672407	frameshift variant	AT/-	delins			25
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs1559662068	BRPF1	0.925		3	9741340	frameshift variant	AG/T	delins			10
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34