DisGeNET - a database of gene-disease associations

List of associated variants

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, C2751492

Source: CLINVAR ×

Results per page

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		4
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			2
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	10
rs267607161	TTR	0.742	0.360	18	31598580	missense variant	G/T	snv	4.0E-06	7.0E-06	1
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			1
rs786201856	APC	0.776	0.200	5	112815507	stop gained	C/T	snv			8
rs79977247	TTR	0.776	0.200	18	31592975	missense variant	T/C;G	snv			2
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			1
rs121918090	TTR	0.790	0.240	18	31593026	missense variant	G/C	snv			1
rs121918097	TTR	0.790	0.280	18	31595137	missense variant	G/A	snv			1
rs121918098	TTR	0.807	0.200	18	31592939	missense variant	A/G	snv			2
rs11541796	TTR	0.807	0.280	18	31593011	missense variant	A/G	snv			1
rs121918100	TTR	0.827	0.160	18	31595184	missense variant	T/C	snv			2
rs121918080	TTR	0.827	0.240	18	31595128	missense variant	G/A;T	snv	2.4E-05		1
rs121918082	TTR	0.827	0.280	18	31595244	missense variant	G/C	snv			1
rs121918094	TTR	0.827	0.280	18	31592921	missense variant	T/C	snv			1
rs1555631390	TTR	0.851	0.160	18	31595128	inframe insertion	-/AGTCTG	delins			4
rs104894665	TTR	0.851	0.120	18	31593017	missense variant	T/C	snv			2
rs121918074	TTR	0.851	0.120	18	31595247	missense variant	C/A	snv	6.0E-04	3.9E-04	1
rs121918091	TTR	0.882	0.200	18	31595169	missense variant	T/C	snv	4.0E-06		3
rs104894664	TTR	0.882	0.120	18	31592959	missense variant	G/A	snv			1
rs121918068	TTR	0.882	0.200	18	31592983	missense variant	T/A;C	snv			1
rs121918071	TTR	0.882	0.240	18	31595209	missense variant	C/A	snv			1
rs121918073	TTR	0.882	0.160	18	31598622	missense variant	C/A	snv			1
rs121918076	TTR	0.882	0.120	18	31595129	missense variant	T/A;C;G	snv			1