DisGeNET - a database of gene-disease associations

List of associated variants

Obsessive compulsive behavior, C0600104

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
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv			8
rs1805502	GRIN2B	0.790	0.200	12	13561247	3 prime UTR variant	A/G	snv		0.25	7
rs301430	SLC1A1 ; SPATA6L	0.827	0.080	9	4576680	synonymous variant	T/C	snv	0.36	0.38	7
rs387906653	SLC20A2	0.882	0.120	8	42428829	stop gained	C/A;T	snv			7
rs869312686	HCFC1	0.882	0.120	X	153952053	missense variant	G/C;T	snv			5
rs1057519438	CDK20	0.925	0.080	9	87969919	stop gained	C/G;T	snv	4.9E-06		4
rs1805476	GRIN2B	0.851	0.160	12	13561429	3 prime UTR variant	G/T	snv		0.33	4
rs776300630	HIVEP1	0.925	0.080	6	12123884	missense variant	G/C;T	snv	8.0E-06		4
rs869312705	CHD2	0.882	0.080	15	92953405	frameshift variant	C/-	delins			3
rs1805477	GRIN2B	0.882	0.080	12	13561795	3 prime UTR variant	T/A;C;G	snv			3
rs34535804	ESR1	0.925	0.040	6	151804096	intron variant	G/A	snv			2
rs1805501	GRIN2B	0.925	0.040	12	13561125	3 prime UTR variant	A/G	snv		8.5E-03	2
rs6355	SLC6A4	0.925	0.080	17	30221792	missense variant	C/G	snv	1.2E-02	1.2E-02	2