DisGeNET - a database of gene-disease associations

List of associated variants

Alexithymia, C0002020

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
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs2254298	CAV3 ; OXTR	0.701	0.200	3	8760542	intron variant	G/A	snv		0.16	23
rs13316193	CAV3 ; OXTR	0.882	0.040	3	8761057	intron variant	T/C	snv		0.45	4
rs237885	CAV3 ; OXTR	0.925	0.080	3	8753857	intron variant	T/G	snv		0.53	3
rs2268490	CAV3 ; OXTR	1.000	0.040	3	8755399	intron variant	C/T	snv		0.18	2
rs4686301	CAV3 ; OXTR	1.000	0.040	3	8756900	intron variant	C/T	snv		0.27	2
rs237887	OXTR ; CAV3	1.000	0.040	3	8755356	intron variant	G/A;C	snv			2
rs1726886	TMEM117			12	44328993	intron variant	G/A	snv		0.67	1