DisGeNET - a database of gene-disease associations

List of associated variants

Body Height, C0005890

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
rs2284746	MFAP2			1	16980180	intron variant	C/A;G	snv			6
rs314277	LIN28B	0.925	0.080	6	104959787	intron variant	A/C;G;T	snv			6
rs395962	LIN28B			6	104949543	intron variant	T/G	snv		0.72	6
rs76895963	CCND2-AS1 ; CCND2	1.000	0.080	12	4275678	intron variant	T/G	snv		1.5E-02	6
rs7740107	L3MBTL3	1.000	0.080	6	130053316	intron variant	T/A;G	snv			6
rs7741741	ADGRG6	0.925	0.040	6	142334664	intron variant	T/A;G	snv			6
rs849141	JAZF1	0.851	0.240	7	28145472	intron variant	A/G	snv		0.78	6
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv		1.7E-02	5
rs1635852	JAZF1	0.882	0.160	7	28149792	intron variant	T/C	snv		0.42	5
rs2070762	TH	0.925	0.080	11	2165105	intron variant	A/G	snv		0.43	5
rs2282978	LOC112268009 ; CDK6			7	92635096	intron variant	T/C	snv		0.38	5
rs2812208	DLEU1			13	50132951	intron variant	G/A;C	snv			5
rs4886782	LOXL1	1.000	0.040	15	73936469	intron variant	G/A	snv		0.27	5
rs4896582	ADGRG6			6	142382740	intron variant	G/A	snv		0.50	5
rs592373	LSP1	0.925	0.080	11	1869760	intron variant	G/A;T	snv	0.63; 6.8E-06		5
rs7141420	NRXN3	1.000	0.080	14	79433111	intron variant	C/T	snv		0.56	5
rs7753012	ADGRG6			6	142424746	intron variant	T/G	snv		0.50	5
rs7801581	HOXA11-AS ; HOXA11			7	27184152	intron variant	C/T	snv		0.24	5
rs9921222	AXIN1	0.925	0.120	16	325782	intron variant	C/T	snv		0.51	5
rs10010325	TET2 ; TET2-AS1	1.000	0.040	4	105185196	intron variant	C/A;G;T	snv			4
rs10512248	PTCH1	0.925	0.120	9	95497421	intron variant	T/A;G	snv			4
rs12982744	DOT1L	0.925	0.040	19	2177194	intron variant	C/A;G;T	snv			4
rs1330	NUCB2	1.000	0.080	11	17294482	intron variant	C/T	snv		0.30	4
rs1490384				6	126530014	intron variant	C/G;T	snv			4
rs1991431	ZBTB38			3	141414608	intron variant	G/A	snv		0.50	4