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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs34872250	SST	1.000	0.080	3	187670560	upstream gene variant	-/AG	ins		2.2E-04	1
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs397509430	HBB	0.882	0.200	11	5227101	5 prime UTR variant	A/-	del			3
rs3212018	CD36	1.000	0.080	7	80674385	3 prime UTR variant	GCACAAATAAAGCACT/-	del		0.11	1
rs374068319	LINGO2	1.000	0.080	9	28425518	intron variant	G/-	del			1
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs1057515576	ARL6	0.807	0.280	3	97787991	frameshift variant	TAT/GAAAA	delins			9
rs1553403917	ALMS1	0.807	0.320	2	73451171	frameshift variant	-/A	delins			7
rs886040857	EIF2S3	0.882	0.240	X	24076757	frameshift variant	TCAA/-	delins			7
rs1567499068	SCAPER	0.882	0.160	15	76574190	frameshift variant	G/-	delins			6
rs146052672	HMGA1	0.851	0.160	6	34242693	intron variant	-/C	delins			5
rs1553548194	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166048938	inframe deletion	AAT/-	delins			3
rs1799774	ENPP1	0.882	0.200	6	131882331	intron variant	T/-	delins			3
rs45487298	HSD11B1-AS1 ; HSD11B1	0.882	0.120	1	209706871	intron variant	-/A	delins			3
rs796052908	MIR6766 ; POLG	0.882	0.160	15	89327329	frameshift variant	AG/-	delins	4.0E-06	1.4E-05	3
rs140236920		0.925	0.120	5	18186317	intergenic variant	-/TAAAT	delins			2
rs193922687	MC4R	1.000	0.080	18	60371514	frameshift variant	CA/-;CACA	delins			1
rs770293321	MC4R	1.000	0.080	18	60372286	stop gained	GT/-	delins	1.2E-05		1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249