DisGeNET - a database of gene-disease associations

List of associated variants

Bipolar Disorder, C0005586

Source: CURATED ×

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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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		1
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	4
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	1
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	4
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		3
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	8
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		2
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	1
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs1480380	HLA-DMB	0.763	0.360	6	32945469	intron variant	C/T	snv		0.11	10
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			4
rs8321	ZNRD1	0.742	0.320	6	30064745	3 prime UTR variant	A/C	snv	5.4E-02	5.9E-02	15
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	10
rs886424	LINC00243	0.776	0.320	6	30814225	non coding transcript exon variant	C/T	snv	7.1E-02	8.7E-02	10
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	9
rs1333045	CDKN2B-AS1	0.776	0.280	9	22119196	non coding transcript exon variant	T/C	snv		0.50	6
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv			18
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs8040868	CHRNA3	0.742	0.240	15	78618839	synonymous variant	T/C	snv	0.35	0.37	7
rs17173608	RARRES2	0.807	0.240	7	150339575	intron variant	T/G	snv		0.11	3
rs174576	FADS2	0.851	0.200	11	61836038	intron variant	C/A;T	snv			12
rs1705236	TSPAN8	0.827	0.200	12	71151778	intron variant	T/A	snv		7.6E-02	1
rs9275524		0.807	0.160	6	32707332	upstream gene variant	T/C	snv		0.58	7
rs10275045	MAD1L1	0.882	0.160	7	1881190	intron variant	C/T	snv		0.35	5