DisGeNET - a database of gene-disease associations

List of associated variants

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, C2751492

Source: CLINVAR ×

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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
rs104894664	TTR	0.882	0.120	18	31592959	missense variant	G/A	snv			1
rs11541790	TTR	1.000	0.120	18	31592956	missense variant	C/T	snv		7.0E-06	1
rs11541796	TTR	0.807	0.280	18	31593011	missense variant	A/G	snv			1
rs121918068	TTR	0.882	0.200	18	31592983	missense variant	T/A;C	snv			1
rs121918069	TTR	0.925	0.200	18	31595152	missense variant	T/A;G	snv			1
rs121918071	TTR	0.882	0.240	18	31595209	missense variant	C/A	snv			1
rs121918072	TTR	1.000	0.120	18	31595230	missense variant	T/G	snv			1
rs121918073	TTR	0.882	0.160	18	31598622	missense variant	C/A	snv			1
rs121918074	TTR	0.851	0.120	18	31595247	missense variant	C/A	snv	6.0E-04	3.9E-04	1
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			1
rs121918076	TTR	0.882	0.120	18	31595129	missense variant	T/A;C;G	snv			1
rs121918077	TTR	0.882	0.120	18	31592992	missense variant	G/C	snv			1
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			1
rs121918080	TTR	0.827	0.240	18	31595128	missense variant	G/A;T	snv	2.4E-05		1
rs121918081	TTR	0.925	0.200	18	31595124	missense variant	A/G	snv			1
rs121918082	TTR	0.827	0.280	18	31595244	missense variant	G/C	snv			1
rs121918083	TTR	1.000	0.120	18	31592914	missense variant	T/C	snv		7.0E-06	1
rs121918084	TTR	0.925	0.120	18	31595191	missense variant	T/C	snv			1
rs121918085	TTR	0.882	0.160	18	31595181	missense variant	A/T	snv	1.6E-05	3.5E-05	1
rs121918086	TTR	1.000	0.120	18	31595160	missense variant	G/A	snv			1
rs121918087	TTR	0.882	0.120	18	31598581	missense variant	C/G	snv			1
rs121918089	TTR	1.000	0.120	18	31598610	missense variant	A/G	snv			1
rs121918090	TTR	0.790	0.240	18	31593026	missense variant	G/C	snv			1
rs121918093	TTR	0.882	0.200	18	31592944	missense variant	G/A;C	snv	4.0E-06		1
rs121918094	TTR	0.827	0.280	18	31592921	missense variant	T/C	snv			1