DisGeNET - a database of gene-disease associations

List of associated variants

Dwarfism, C0013336

Source: INFERRED ×

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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
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs104894419	LIG4	0.807	0.360	13	108208829	stop gained	G/A	snv	9.9E-05	7.0E-05	8
rs111033552	NT5DC1 ; COL10A1	0.925	0.120	6	116120105	missense variant	A/G	snv			1
rs1131691804	FBN1	0.807	0.200	15	48463123	missense variant	G/A	snv			6
rs121909362	GHR	0.827	0.160	5	42699919	missense variant	C/T	snv	3.9E-03	4.1E-03	1
rs121912889	COL2A1	0.851	0.160	12	47974234	missense variant	T/C	snv			2
rs121913479	FGFR3	0.763	0.280	4	1804362	missense variant	G/A;T	snv	4.0E-06		4
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			8
rs121917843	PROP1	0.882	0.160	5	177994231	missense variant	G/A	snv	4.0E-06		1
rs121917883	GHSR	0.851	0.160	3	172447803	missense variant	G/A;T	snv	2.8E-05		2
rs121918010	ALPL	0.827	0.200	1	21573781	missense variant	T/C	snv	7.2E-05	4.2E-05	3
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs137853092	WNK4	0.851	0.240	17	42787494	missense variant	C/G	snv			1
rs137853220	LOC112268204 ; GH1 ; CSHL1	0.882	0.200	17	63917909	missense variant	G/A	snv	4.0E-06		1
rs137853221	CSHL1 ; GH1 ; LOC112268204	0.925	0.160	17	63917803	missense variant	T/C	snv			1
rs137853222	LOC112268204 ; GH1 ; CSHL1	0.925	0.160	17	63918072	missense variant	C/A;G	snv			1
rs137853223	LOC112268204 ; CSHL1 ; GH1	0.851	0.160	17	63917337	missense variant	C/T	snv		7.0E-06	1
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
rs1555545033	THRA	0.807	0.160	17	40088306	missense variant	C/T	snv			1
rs1566902569	FBN1	0.882	0.160	15	48460299	missense variant	C/A	snv			9
rs2076739	TG	0.827	0.200	8	132971804	missense variant	T/A	snv			1
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	12