DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Pediatric failure to thrive ×

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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
rs886039778	SON	0.925	0.120	21	33552303	frameshift variant	-/A	delins			3
rs1555580263	SMARCD2	0.827	0.240	17	63837200	stop gained	-/AGGTAGAACCTTATCTGCCATCTTC	delins			6
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1569146993	TCF20	0.851	0.320	22	42211700	frameshift variant	-/C	delins			5
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs730882198	SPART	0.851	0.200	13	36314259	frameshift variant	-/T	delins	1.2E-05		6
rs886039905	COL6A2	0.882	0.240	21	46125854	frameshift variant	-/T	delins			4
rs1557182317	EMD	0.925	0.160	X	154379790	frameshift variant	-/T	delins			3
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs869312822	GNB1	0.827	0.200	1	1806514	missense variant	A/C	snv			7
rs1553354956	WDR26	0.882	0.200	1	224404504	missense variant	A/C	snv			4
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			13
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	12
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs1057518733	SMARCD2	0.807	0.280	17	63837439	splice donor variant	A/G	snv			7
rs878853160	CDK13	0.882	0.120	7	40046007	missense variant	A/G	snv			5
rs863224229	SURF2 ; SURF1	0.925	0.200	9	133356441	start lost	ACCGCCGCCATCGCACCCGGCCCC/-	delins			4
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs886039779	SON	0.925	0.120	21	33557227	frameshift variant	C/-	delins			3