DisGeNET - a database of gene-disease associations

List of associated variants

Birth Weight, C0005612

Source: GWASCAT ×

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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
rs11893688	ADAM17			2	9555153	intron variant	C/T	snv		0.64	2
rs12909648	AKAP13			15	85681339	intron variant	G/A	snv		0.40	2
rs11055034	APOLD1 ; LOC107984129	1.000	0.080	12	12737692	intron variant	C/A;T	snv			2
rs6931514	CDKAL1	0.925	0.120	6	20703721	intron variant	A/G	snv		0.27	2
rs34471628	DUSP1			5	172769749	missense variant	A/G	snv	2.4E-02	2.2E-02	2
rs12153596	EBF1			5	158983170	non coding transcript exon variant	C/T	snv		0.30	2
rs4932373	FES	1.000	0.040	15	90886057	intron variant	A/C	snv		0.25	2
rs10814916	GLIS3	0.851	0.200	9	4293150	intron variant	A/C	snv		0.57	2
rs7780752	GNGT1			7	93612328	intron variant	T/C	snv		0.27	2
rs2131354	HHIP			4	144678756	intron variant	G/A	snv		0.41	2
rs6845999	HHIP ; HHIP-AS1			4	144644674	intron variant	C/T	snv		0.35	2
rs11867479	KCNJ16			17	70094066	intron variant	C/A;T	snv			2
rs1415701	L3MBTL3			6	130024690	intron variant	G/A	snv		0.31	2
rs6569647	L3MBTL3			6	130016121	intron variant	T/C	snv		0.34	2
rs724577	LCORL			4	17991787	intron variant	A/C	snv		0.71	2
rs925098	LCORL			4	17918188	intron variant	G/A	snv		0.70	2
rs1482852	LINC02029			3	157080505	upstream gene variant	A/G	snv		0.46	2
rs12461110	NLRP11			19	55809297	missense variant	G/A	snv	0.32	0.26	2
rs7847628	PHF19			9	120868947	intron variant	A/C;G	snv			2
rs2274224	PLCE1-AS1 ; PLCE1	0.882	0.080	10	94279840	missense variant	G/A;C	snv	8.8E-05; 0.44		2
rs753381	PLCG1 ; MIR6871			20	41168825	missense variant	T/C	snv	0.61	0.67	2
rs2421016	PLEKHA1	0.925	0.120	10	122407996	intron variant	C/T	snv		0.46	2
rs9267812	PPT2 ; PPT2-EGFL8			6	32160617	intron variant	C/G;T	snv			2
rs7541039	PROX1			1	214003436	intron variant	C/T	snv		0.27	2
rs2608029	PVT1	1.000	0.040	8	128157880	intron variant	C/G	snv		0.37	2