DisGeNET - a database of gene-disease associations

List of associated variants

Dwarfism, C0013336

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
rs587779351	XRCC4	0.851	0.200	5	83105046	missense variant	T/C	snv	1.6E-05		6
rs121909173	HESX1	0.851	0.240	3	57199901	missense variant	C/G	snv	2.8E-05	1.4E-05	5
rs122460151	ARSL	0.851	0.280	X	2958423	missense variant	C/G	snv	7.1E-05	3.8E-05	5
rs137853092	WNK4	0.851	0.240	17	42787494	missense variant	C/G	snv			5
rs1481733213	ATR	0.851	0.240	3	142568059	splice region variant	T/C	snv			5
rs1553761113	ATR	0.851	0.240	3	142507967	missense variant	C/A	snv			5
rs121912889	COL2A1	0.851	0.160	12	47974234	missense variant	T/C	snv			4
rs121917883	GHSR	0.851	0.160	3	172447803	missense variant	G/A;T	snv	2.8E-05		4
rs137853223	LOC112268204 ; CSHL1 ; GH1	0.851	0.160	17	63917337	missense variant	C/T	snv		7.0E-06	4
rs372703574	TGM2	0.851	0.160	20	38146858	missense variant	G/A	snv	4.8E-05	6.3E-05	4
rs755905735	CSHL1 ; LOC112268204 ; GH1	0.851	0.160	17	63917338	missense variant	G/A	snv	8.0E-06	7.0E-06	4
rs1566902569	FBN1	0.882	0.160	15	48460299	missense variant	C/A	snv			9
rs137853220	LOC112268204 ; GH1 ; CSHL1	0.882	0.200	17	63917909	missense variant	G/A	snv	4.0E-06		4
rs387906623	FBN1	0.882	0.120	15	48460258	missense variant	C/T	snv			4
rs536639583	HOXD13	0.882	0.160	2	176092922	missense variant	G/C	snv	1.9E-04	6.7E-04	4
rs121917843	PROP1	0.882	0.160	5	177994231	missense variant	G/A	snv	4.0E-06		3
rs397514487	POC1A	0.882	0.200	3	52149850	stop gained	G/A	snv		7.0E-06	3
rs587777614	DNA2	0.882	0.160	10	68416703	frameshift variant	G/-	delins			3
rs587779348	CRIPT	0.882	0.160	2	46623765	frameshift variant	T/-	delins			3
rs587779356	CRIPT	0.882	0.160	2	46619676	frameshift variant	-/GG	delins			3
rs1218653273	STAT5A	0.925	0.160	17	42292005	missense variant	C/T	snv	4.0E-06		3
rs17881656	FGFR3	0.925	0.240	4	1804404	missense variant	T/A;C	snv	8.0E-06; 3.3E-03		3
rs557914261	BLVRB	0.925	0.160	19	40458393	missense variant	G/A	snv		2.8E-05	3
rs759838407	LIG4	0.925	0.160	13	108209756	frameshift variant	AG/-;AGAG	delins			3
rs1057517917	PTPN11	0.925	0.200	12	112450368	missense variant	AT/GC	mnv			2