DisGeNET - a database of gene-disease associations

List of associated variants

Obesity, C0028754

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
rs133068	MCHR1	1.000	0.080	22	40678403	upstream gene variant	G/C	snv		0.64	1
rs5762430	TTC28-AS1 ; TTC28	1.000	0.080	22	27982484	synonymous variant	A/G	snv	0.21	0.21	1
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs235326	ITGB2	0.925	0.200	21	44891898	synonymous variant	A/C;G	snv	0.68		2
rs3746876	KCNJ15	0.925	0.120	21	38299525	synonymous variant	C/T	snv	2.0E-02	3.2E-02	2
rs11088859	NCAM2	1.000	0.080	21	21317024	intron variant	G/A	snv		4.5E-02	1
rs200431130	RUNX1	1.000	0.080	21	34887039	missense variant	A/G;T	snv	2.6E-04		1
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs2295490	TRIB3	0.724	0.320	20	388261	missense variant	A/G;T	snv	0.18; 4.0E-06		16
rs979012		1.000	0.080	20	6642727	intergenic variant	T/C	snv		0.67	6
rs6013029	CTNNBL1	0.882	0.160	20	37771178	intron variant	G/T	snv		0.12	5
rs74315394	MKKS	0.851	0.440	20	10412791	missense variant	C/A	snv	5.2E-03	5.0E-03	4
rs4812829	HNF4A	0.925	0.120	20	44360627	intron variant	G/A	snv		0.18	3
rs1545	MKKS	0.925	0.080	20	10405365	missense variant	C/A	snv	0.14	0.14	2
rs1547	MKKS	0.925	0.080	20	10405411	missense variant	G/A	snv	0.14	0.14	2
rs1926065		0.925	0.120	20	56256281	intergenic variant	G/A	snv		0.31	2
rs6020846	CTNNBL1	0.925	0.080	20	37777265	intron variant	A/G	snv		0.13	2
rs6064099	DOK5	0.925	0.120	20	54643425	intron variant	G/C	snv	0.30	0.36	2
rs13041126	LOC105372666 ; LINC01524	1.000	0.080	20	52476457	intron variant	T/C	snv		0.25	1
rs185218834	SSTR4	1.000	0.080	20	23036294	missense variant	T/C;G	snv	4.0E-06; 3.5E-04		1
rs2296239	CYP24A1	1.000	0.080	20	54158989	synonymous variant	C/T	snv	0.28	0.29	1