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
rs587779356	CRIPT	0.882	0.160	2	46619676	frameshift variant	-/GG	delins			3
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			13
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs111033552	NT5DC1 ; COL10A1	0.925	0.120	6	116120105	missense variant	A/G	snv			2
rs80053154	FGFR3	0.925	0.120	4	1805636	missense variant	A/G	snv	1.2E-05	7.0E-06	2
rs540473875	GHR	1.000	0.120	5	42718502	missense variant	A/G	snv	4.1E-04	4.2E-05	1
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
rs587779349	BRCA2	0.776	0.280	13	32380040	frameshift variant	C/-	delins			8
rs1566902569	FBN1	0.882	0.160	15	48460299	missense variant	C/A	snv			9
rs1211533350	FGFR3	0.827	0.120	4	1805638	synonymous variant	C/A	snv	4.0E-06	7.0E-06	5
rs1553761113	ATR	0.851	0.240	3	142507967	missense variant	C/A	snv			5
rs137853222	LOC112268204 ; GH1 ; CSHL1	0.925	0.160	17	63918072	missense variant	C/A;G	snv			2
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
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
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs397515453	PIK3R1	0.752	0.440	5	68296301	missense variant	C/T	snv			11
rs1555545033	THRA	0.807	0.160	17	40088306	missense variant	C/T	snv			7
rs121909362	GHR	0.827	0.160	5	42699919	missense variant	C/T	snv	3.9E-03	4.1E-03	5