DisGeNET - a database of gene-disease associations

List of associated variants

Height, C0489786

Source: CURATED ×

Results per page

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 GENOME	Num. diseases
rs11599750	CPN1			10	100045685	intron variant	C/T	snv	0.40	3
rs4965593	ADAMTS17			15	100218180	intron variant	C/G;T	snv		2
rs4965598	ADAMTS17			15	100219409	intron variant	C/A;T	snv		2
rs4533267	ADAMTS17			15	100246066	intron variant	A/G	snv	0.63	2
rs7971536	DRAM1			12	101980010	intron variant	T/A	snv	0.47	2
rs1520223	HELLPAR ; LINC02456			12	102332560	non coding transcript exon variant	T/A;C	snv		2
rs5742692	LINC02456 ; IGF1			12	102405820	intron variant	A/G	snv	6.6E-02	2
rs4338381	COL11A1	1.000	0.040	1	103107371	intron variant	A/C;G	snv		2
rs323425	LOC107984606			13	104808311	intergenic variant	T/A;C	snv		1
rs9391253	LIN28B-AS1			6	104919741	intron variant	A/T	snv	0.29	3
rs7759938	LIN28B-AS1	0.925	0.120	6	104931079	intron variant	C/T	snv	0.62	5
rs314277	LIN28B	0.925	0.080	6	104959787	intron variant	A/C;G;T	snv		4
rs314268	LIN28B			6	104970103	intron variant	G/A	snv	0.64	3
rs10010325	TET2 ; TET2-AS1	1.000	0.040	4	105185196	intron variant	C/A;G;T	snv		4
rs6855629	TET2-AS1 ; TET2			4	105213159	intron variant	G/A;T	snv	0.28	2
rs7027110				9	106836765	intergenic variant	G/A	snv	0.20	2
rs4743034	ZNF462	1.000	0.080	9	106870072	intron variant	G/A	snv	0.27	3
rs13177718	FER			5	108777643	intron variant	C/T	snv	5.0E-02	2
rs1046943	MICAL1 ; ZBTB24	1.000	0.040	6	109462738	3 prime UTR variant	A/G	snv	0.52	2
rs1468758				9	111044802	intergenic variant	C/T	snv	0.23	2
rs946053	COL27A1	1.000		9	114287611	intron variant	T/G	snv	0.63	2
rs10804515	ZBTB20			3	114983210	intron variant	A/G	snv	0.60	1
rs1463833	LOC105370003			12	115378637	intergenic variant	A/G;T	snv		1
rs1498759	LOC105370003			12	115386277	intergenic variant	C/T	snv	0.37	1
rs751543	PAPPA			9	116360063	intron variant	C/T	snv	0.65	2