DisGeNET - a database of gene-disease associations

List of associated variants

MAJOR AFFECTIVE DISORDER 6, C1970945

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
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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs6318	HTR2C ; LOC105373313	0.623	0.520	X	114731326	missense variant	C/G;T	snv			42
rs1176744	HTR3B	0.708	0.240	11	113932306	missense variant	A/C	snv	0.33	0.36	19
rs4290270	TPH2	0.724	0.320	12	72022455	synonymous variant	A/T	snv	0.57	0.55	17
rs2251219	SMIM4 ; PBRM1	0.732	0.120	3	52550771	synonymous variant	T/C;G	snv	0.39; 4.0E-06	0.34	14
rs821616	DISC1 ; TSNAX-DISC1	0.752	0.200	1	232008852	missense variant	A/T	snv	0.26	0.29	13
rs3788266	S100B	0.732	0.160	21	46606442	upstream gene variant	G/A	snv		0.50	12
rs169068	SSTR5-AS1 ; SSTR5	0.742	0.280	16	1079872	missense variant	C/T	snv	0.54	0.50	12
rs4988483	SSTR5-AS1 ; SSTR5	0.752	0.240	16	1079010	missense variant	C/A	snv	3.7E-02	3.7E-02	11
rs9834970		0.790	0.080	3	36814539	downstream gene variant	T/C	snv		0.45	9
rs3771829	TACR1	0.790	0.120	2	75137019	intron variant	C/G	snv		0.11	9
rs1386483	TPH2	0.790	0.080	12	72018714	intron variant	T/C	snv		0.53	9
rs1469698992	NUP214	0.776	0.080	9	131190453	missense variant	G/A	snv			8
rs147837176	SLC6A3	0.776	0.080	5	1400949	missense variant	T/C	snv	3.1E-04	2.8E-04	8
rs1062613	HTR3A	0.807	0.080	11	113975284	5 prime UTR variant	T/C	snv	0.79	0.71	7
rs17110563	TPH2	0.827	0.080	12	71972526	missense variant	C/T	snv	1.2E-03	1.1E-03	7
rs766288	TSNAX-DISC1 ; TSNAX	0.790	0.080	1	231557942	intron variant	G/T	snv		0.40	7
rs707284	ERBB4	0.807	0.080	2	211974321	intron variant	T/A;C	snv			6
rs2076137	MLC1	0.807	0.080	22	50077337	intron variant	C/T	snv		0.14	6
rs2235349	MLC1	0.807	0.080	22	50079810	intron variant	T/C	snv		0.22	6