DisGeNET - a database of gene-disease associations

List of associated variants

Borderline Personality Disorder, C0006012

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
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
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs6311	HTR2A	0.645	0.640	13	46897343	upstream gene variant	C/T	snv		0.40	41
rs6295	HTR1A	0.645	0.200	5	63962738	intron variant	C/G	snv		0.49	40
rs746682028	BDNF ; BDNF-AS	0.645	0.480	11	27658414	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		36
rs165599	ARVCF ; COMT	0.677	0.280	22	19969258	3 prime UTR variant	G/A	snv		0.56	27
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv		0.36	27
rs2254298	CAV3 ; OXTR	0.701	0.200	3	8760542	intron variant	G/A	snv		0.16	23
rs3800373	LOC101929309 ; FKBP5	0.752	0.200	6	35574699	3 prime UTR variant	C/A	snv		0.68	22
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv			21
rs2230912	P2RX7 ; LOC105370032	0.752	0.280	12	121184393	missense variant	A/G	snv	0.13	0.12	16
rs6354	SLC6A4	0.732	0.280	17	30222880	5 prime UTR variant	G/C;T	snv			16
rs174576	FADS2	0.851	0.200	11	61836038	intron variant	C/A;T	snv			14
rs2251219	SMIM4 ; PBRM1	0.732	0.120	3	52550771	synonymous variant	T/C;G	snv	0.39; 4.0E-06	0.34	14
rs10994336	ANK3	0.776	0.160	10	60420054	intron variant	C/T	snv		7.5E-02	12
rs956572	BCL2	0.742	0.280	18	63153338	intron variant	A/G	snv		0.65	11
rs5174	LRP8	0.776	0.240	1	53247055	missense variant	C/T	snv	0.29	0.28	10
rs7975	GSTZ1	0.763	0.320	14	77326864	stop gained	G/A;C;T	snv	0.31	0.32	9