DisGeNET - a database of gene-disease associations

List of associated variants

Tachycardia, C0039231

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs1307997067	TAX1BP3 ; P2RX5-TAX1BP3	0.851	0.320	17	3664199	missense variant	A/C;G	snv	4.0E-06	7.0E-06	7