DisGeNET - a database of gene-disease associations

List of associated variants

Pediatric failure to thrive, C2315100

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
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs776679653	ISCA1	0.827	0.200	9	86266174	missense variant	C/T	snv	4.2E-06		11
rs141970897	CRAT	0.925	0.200	9	129104269	missense variant	T/C	snv	1.1E-03	7.8E-04	8
rs730882246	ISCA2 ; NPC2	0.807	0.200	14	74494329	missense variant	G/A	snv			8
rs762425351	CRAT	0.925	0.200	9	129095573	missense variant	C/T	snv	1.2E-04	7.7E-05	8
rs869312822	GNB1	0.827	0.200	1	1806514	missense variant	A/C	snv			8
rs730882198	SPART	0.851	0.200	13	36314259	frameshift variant	-/T	delins	1.2E-05		6
rs1553354952	WDR26	0.882	0.200	1	224404492	missense variant	C/T	snv			4
rs1553354956	WDR26	0.882	0.200	1	224404504	missense variant	A/C	snv			4
rs863224229	SURF2 ; SURF1	0.925	0.200	9	133356441	start lost	ACCGCCGCCATCGCACCCGGCCCC/-	delins			4
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
rs1164484724	MAN1B1	0.790	0.240	9	137108433	stop gained	C/T	snv		7.0E-06	13
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
rs1057521737	EP300	0.827	0.240	22	41173768	missense variant	T/C	snv			11
rs188675529	CENPT ; THAP11	0.827	0.240	16	67842794	missense variant	C/G;T	snv	1.6E-03	6.0E-04	11
rs794727774	FUCA1	0.827	0.240	1	23848684	stop gained	C/T	snv			11
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs1555580263	SMARCD2	0.827	0.240	17	63837200	stop gained	-/AGGTAGAACCTTATCTGCCATCTTC	delins			6
rs80338848	SLC26A4	0.851	0.240	7	107675051	missense variant	T/C	snv	2.7E-04	3.4E-04	6
rs142920240	CFTR	0.851	0.240	7	117540273	missense variant	T/A	snv	1.4E-04	7.0E-05	5